Canonical Allele Identifier: CA621717050

Gene: CLN3

Linked Data

• dbSNP Id: rs1225893152
• gnomAD v2: 16-28500713-A-ACAGAG
• MyVariant Identifiers: chr16:g.28500713_28500714insCAGAG (hg19) ; chr16:g.28489392_28489393insCAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28489392_28489393insCAGAG , CM000678.2:g.28489392_28489393insCAGAG	GRCh38
NC_000016.9:g.28500713_28500714insCAGAG , CM000678.1:g.28500713_28500714insCAGAG	GRCh37
NC_000016.8:g.28408214_28408215insCAGAG	NCBI36
NG_008654.2:g.7910_7911insCTCTG , LRG_689:g.7910_7911insCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.126-7_126-6insCTCTG	ENSP00000329171.9:n.126-7_126-6insCTCTG
ENST00000355477.10:c.126-7_126-6insCTCTG	ENSP00000347660.7:n.126-7_126-6insCTCTG
ENST00000357857.14:c.-37-7_-37-6insCTCTG	ENSP00000350523.9:n.-37-7_-37-6insCTCTG
ENST00000359984.12:c.126-7_126-6insCTCTG	ENSP00000353073.9:n.126-7_126-6insCTCTG
ENST00000360019.8:c.126-7_126-6insCTCTG	ENSP00000353116.3:n.126-7_126-6insCTCTG
ENST00000395653.9:c.-37-7_-37-6insCTCTG	ENSP00000379014.5:n.-37-7_-37-6insCTCTG
ENST00000561505.2:c.-37-7_-37-6insCTCTG	ENSP00000457615.2:n.-37-7_-37-6insCTCTG
ENST00000561689.6:n.411-7_411-6insCTCTG
ENST00000565316.6:c.126-7_126-6insCTCTG	ENSP00000456117.1:n.126-7_126-6insCTCTG
ENST00000565778.6:c.126-7_126-6insCTCTG	ENSP00000458015.1:n.126-7_126-6insCTCTG
ENST00000566083.6:n.584-7_584-6insCTCTG
ENST00000566824.6:n.106-7_106-6insCTCTG
ENST00000567495.6:c.126-7_126-6insCTCTG	ENSP00000456013.2:n.126-7_126-6insCTCTG
ENST00000567963.6:c.-37-7_-37-6insCTCTG	ENSP00000455387.2:n.-37-7_-37-6insCTCTG
ENST00000568076.6:n.253-7_253-6insCTCTG
ENST00000568422.6:c.126-7_126-6insCTCTG	ENSP00000455549.2:n.126-7_126-6insCTCTG
ENST00000568443.2:c.279-7_279-6insCTCTG	ENSP00000454899.2:n.279-7_279-6insCTCTG
ENST00000568452.6:n.229-7_229-6insCTCTG
ENST00000568472.6:n.299-7_299-6insCTCTG
ENST00000568497.6:c.-389-7_-389-6insCTCTG	ENSP00000456414.2:n.-389-7_-389-6insCTCTG
ENST00000568558.6:c.126-7_126-6insCTCTG	ENSP00000455603.2:n.126-7_126-6insCTCTG
ENST00000569430.7:c.126-7_126-6insCTCTG	ENSP00000454229.1:n.126-7_126-6insCTCTG
ENST00000628023.3:c.126-7_126-6insCTCTG	ENSP00000486178.1:n.126-7_126-6insCTCTG
ENST00000635861.1:c.-37-7_-37-6insCTCTG	ENSP00000490034.1:n.-37-7_-37-6insCTCTG
ENST00000635887.1:c.126-7_126-6insCTCTG	ENSP00000490709.1:n.126-7_126-6insCTCTG
ENST00000635958.1:n.237-7_237-6insCTCTG
ENST00000635973.1:c.126-1852_126-1851insCTCTG	ENSP00000490363.1:n.126-1852_126-1851insCTCTG
ENST00000636017.1:c.126-7_126-6insCTCTG	ENSP00000490538.1:n.126-7_126-6insCTCTG
ENST00000636078.1:n.168-7_168-6insCTCTG
ENST00000636147.2:c.126-7_126-6insCTCTG MANE Select	ENSP00000490105.1:n.126-7_126-6insCTCTG
ENST00000636172.1:c.126-7_126-6insCTCTG	ENSP00000490505.1:n.126-7_126-6insCTCTG
ENST00000636228.1:c.-37-7_-37-6insCTCTG	ENSP00000489627.1:n.-37-7_-37-6insCTCTG
ENST00000636503.1:c.126-7_126-6insCTCTG	ENSP00000489824.1:n.126-7_126-6insCTCTG
ENST00000636766.1:c.126-7_126-6insCTCTG	ENSP00000489841.1:n.126-7_126-6insCTCTG
ENST00000636839.1:n.278-7_278-6insCTCTG
ENST00000636853.1:n.202-7_202-6insCTCTG
ENST00000636866.1:c.126-7_126-6insCTCTG	ENSP00000490880.1:n.126-7_126-6insCTCTG
ENST00000636977.1:n.225-7_225-6insCTCTG
ENST00000637100.1:c.126-7_126-6insCTCTG	ENSP00000490394.1:n.126-7_126-6insCTCTG
ENST00000637107.1:c.279-7_279-6insCTCTG	ENSP00000490248.1:n.279-7_279-6insCTCTG
ENST00000637184.1:c.126-7_126-6insCTCTG	ENSP00000489952.1:n.126-7_126-6insCTCTG
ENST00000637299.1:c.79-7_79-6insCTCTG	ENSP00000489823.1:n.79-7_79-6insCTCTG
ENST00000637376.1:c.126-7_126-6insCTCTG	ENSP00000490758.1:n.126-7_126-6insCTCTG
ENST00000637578.1:c.-37-7_-37-6insCTCTG	ENSP00000490206.1:n.-37-7_-37-6insCTCTG
ENST00000637699.1:c.126-7_126-6insCTCTG	ENSP00000490049.1:n.126-7_126-6insCTCTG
ENST00000637871.1:c.126-7_126-6insCTCTG	ENSP00000490670.1:n.126-7_126-6insCTCTG
ENST00000637985.1:c.*65-7_*65-6insCTCTG	ENSP00000490932.1:n.*65-7_*65-6insCTCTG
ENST00000333496.13:c.126-7_126-6insCTCTG	ENSP00000329171.9:n.126-7_126-6insCTCTG
ENST00000355477.9:c.126-7_126-6insCTCTG	ENSP00000347660.6:n.126-7_126-6insCTCTG
ENST00000357806.11:c.126-7_126-6insCTCTG	ENSP00000350457.7:n.126-7_126-6insCTCTG
ENST00000357857.13:c.-37-7_-37-6insCTCTG	ENSP00000350523.9:n.-37-7_-37-6insCTCTG
ENST00000359984.11:c.-37-7_-37-6insCTCTG	ENSP00000353073.8:n.-37-7_-37-6insCTCTG
ENST00000360019.6:c.126-7_126-6insCTCTG	ENSP00000353116.2:n.126-7_126-6insCTCTG
ENST00000395653.8:c.-95-7_-95-6insCTCTG	ENSP00000379014.4:n.-95-7_-95-6insCTCTG
ENST00000561505.1:c.-95-7_-95-6insCTCTG	ENSP00000457615.1:n.-95-7_-95-6insCTCTG
ENST00000561689.5:n.47-7_47-6insCTCTG
ENST00000563874.5:n.1480-7_1480-6insCTCTG
ENST00000564574.5:n.174-7_174-6insCTCTG
ENST00000565047.1:n.114-731_114-730insCTCTG
ENST00000565140.5:c.126-7_126-6insCTCTG	ENSP00000455342.1:n.126-7_126-6insCTCTG
ENST00000565236.1:n.510-7_510-6insCTCTG
ENST00000565316.5:c.126-7_126-6insCTCTG	ENSP00000456117.1:n.126-7_126-6insCTCTG
ENST00000565688.5:c.126-1852_126-1851insCTCTG	ENSP00000456122.1:n.126-1852_126-1851insCTCTG
ENST00000565778.5:c.126-7_126-6insCTCTG	ENSP00000458015.1:n.126-7_126-6insCTCTG
ENST00000566057.5:c.126-1652_126-1651insCTCTG	ENSP00000456693.1:n.126-1652_126-1651insCTCTG
ENST00000566083.5:n.357-7_357-6insCTCTG
ENST00000566824.5:n.255-7_255-6insCTCTG
ENST00000567495.5:c.126-7_126-6insCTCTG	ENSP00000456013.1:n.126-7_126-6insCTCTG
ENST00000567804.1:c.126-7_126-6insCTCTG	ENSP00000455365.1:n.126-7_126-6insCTCTG
ENST00000567963.5:c.126-7_126-6insCTCTG	ENSP00000455387.1:n.126-7_126-6insCTCTG
ENST00000568076.5:n.126-7_126-6insCTCTG
ENST00000568224.4:c.-37-7_-37-6insCTCTG	ENSP00000454253.1:n.-37-7_-37-6insCTCTG
ENST00000568422.5:c.-95-7_-95-6insCTCTG	ENSP00000455549.1:n.-95-7_-95-6insCTCTG
ENST00000568443.1:c.279-7_279-6insCTCTG	ENSP00000454899.1:n.279-7_279-6insCTCTG
ENST00000568452.5:n.126-7_126-6insCTCTG
ENST00000568472.5:n.61-7_61-6insCTCTG
ENST00000568497.5:c.126-7_126-6insCTCTG	ENSP00000456414.1:n.126-7_126-6insCTCTG
ENST00000568558.5:c.-37-7_-37-6insCTCTG	ENSP00000455603.1:n.-37-7_-37-6insCTCTG
ENST00000569030.5:c.126-7_126-6insCTCTG	ENSP00000454680.1:n.126-7_126-6insCTCTG
ENST00000569430.5:c.126-7_126-6insCTCTG	ENSP00000454229.1:n.126-7_126-6insCTCTG
ENST00000628023.2:c.126-7_126-6insCTCTG	ENSP00000486178.1:n.126-7_126-6insCTCTG
ENST00000631023.2:c.126-7_126-6insCTCTG	ENSP00000486616.1:n.126-7_126-6insCTCTG
NM_000086.2:c.126-7_126-6insCTCTG , LRG_689t1:c.126-7_126-6insCTCTG	NP_000077.1:n.126-7_126-6insCTCTG
NM_001042432.1:c.126-7_126-6insCTCTG , LRG_689t2:c.126-7_126-6insCTCTG	NP_001035897.1:n.126-7_126-6insCTCTG
NM_001286104.1:c.126-7_126-6insCTCTG	NP_001273033.1:n.126-7_126-6insCTCTG
NM_001286105.1:c.-95-7_-95-6insCTCTG	NP_001273034.1:n.-95-7_-95-6insCTCTG
NM_001286109.1:c.-37-7_-37-6insCTCTG	NP_001273038.1:n.-37-7_-37-6insCTCTG
NM_001286110.1:c.-37-7_-37-6insCTCTG	NP_001273039.1:n.-37-7_-37-6insCTCTG
NM_001042432.2:c.126-7_126-6insCTCTG MANE Select	NP_001035897.1:n.126-7_126-6insCTCTG
NM_001286104.2:c.126-7_126-6insCTCTG	NP_001273033.1:n.126-7_126-6insCTCTG
NM_001286105.2:c.-95-7_-95-6insCTCTG	NP_001273034.1:n.-95-7_-95-6insCTCTG
NM_001286109.2:c.-37-7_-37-6insCTCTG	NP_001273038.1:n.-37-7_-37-6insCTCTG
NM_001286110.2:c.-37-7_-37-6insCTCTG	NP_001273039.1:n.-37-7_-37-6insCTCTG