Canonical Allele Identifier: CA272387621

Gene: CLN6

Linked Data

• ClinVar Variation Id: 589027
• ClinVar RCV Id: RCV001066965 ; RCV002317971
• dbSNP Id: rs1030759897
• gnomAD v4: 15-68214286-G-A
• MyVariant Identifiers: chr15:g.68506624G>A (hg19) ; chr15:g.68214286G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214286G>A , CM000677.2:g.68214286G>A	GRCh38
NC_000015.9:g.68506624G>A , CM000677.1:g.68506624G>A	GRCh37
NC_000015.8:g.66293678G>A	NCBI36
NG_008764.2:g.47926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.297+4C>T MANE Select	ENSP00000249806.5:n.297+4C>T
ENST00000562767.2:c.83+15216C>T	ENSP00000456336.1:n.83+15216C>T
ENST00000563917.2:n.139+4C>T
ENST00000565471.6:c.84-4527C>T	ENSP00000457384.1:n.84-4527C>T
ENST00000635747.1:c.*200+4C>T	ENSP00000490627.1:n.*200+4C>T
ENST00000635754.1:n.1323C>T
ENST00000636020.1:n.433C>T
ENST00000636212.1:c.297+4C>T	ENSP00000489851.1:n.297+4C>T
ENST00000636314.1:c.182+4C>T	ENSP00000490295.1:n.182+4C>T
ENST00000637054.1:c.198+4250C>T	ENSP00000490807.1:n.198+4250C>T
ENST00000637223.1:c.*200+4C>T	ENSP00000490010.1:n.*200+4C>T
ENST00000637329.1:c.208+4C>T
ENST00000637450.1:c.182+4C>T	ENSP00000490204.1:n.182+4C>T
ENST00000637494.1:c.199-2968C>T	ENSP00000490057.1:n.199-2968C>T
ENST00000637667.1:c.199-2423C>T	ENSP00000489843.1:n.199-2423C>T
ENST00000637823.1:c.223+4C>T
ENST00000637888.1:c.198+4250C>T	ENSP00000490546.1:n.198+4250C>T
ENST00000638076.1:c.297+4C>T	ENSP00000490373.1:n.297+4C>T
ENST00000638144.1:n.129+4C>T
ENST00000646164.1:c.38+4250C>T
ENST00000249806.9:c.297+4C>T	ENSP00000249806.5:n.297+4C>T
ENST00000538696.5:c.393+4C>T	ENSP00000445770.1:n.393+4C>T
ENST00000562767.1:c.83+15216C>T	ENSP00000456336.1:n.83+15216C>T
ENST00000563917.1:n.78+4C>T
ENST00000564752.1:c.297+4C>T	ENSP00000457822.1:n.297+4C>T
ENST00000564846.1:n.733C>T
ENST00000565471.5:c.84-4527C>T	ENSP00000457384.1:n.84-4527C>T
ENST00000566347.5:c.297+4C>T	ENSP00000457783.1:n.297+4C>T
ENST00000567060.5:c.297+4C>T	ENSP00000454818.1:n.297+4C>T
NM_017882.2:c.297+4C>T	NP_060352.1:n.297+4C>T
XR_931861.1:n.400+4C>T
NM_017882.3:c.297+4C>T MANE Select	NP_060352.1:n.297+4C>T