Canonical Allele Identifier: CA2184878895

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209163_68209164delinsAC , CM000677.2:g.68209163_68209164delinsAC	GRCh38
NC_000015.9:g.68501501_68501502delinsAC , CM000677.1:g.68501501_68501502delinsAC	GRCh37
NC_000015.8:g.66288555_66288556delinsAC	NCBI36
NG_008764.2:g.53048_53049delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+473_665+474delinsGT MANE Select	ENSP00000249806.5:n.665+473_665+474delinsGT
ENST00000562767.2:c.84-11536_84-11535delinsGT	ENSP00000456336.1:n.84-11536_84-11535delinsGT
ENST00000563917.2:n.507+473_507+474delinsGT
ENST00000565471.6:c.206+473_206+474delinsGT	ENSP00000457384.1:n.206+473_206+474delinsGT
ENST00000635747.1:c.*568+473_*568+474delinsGT	ENSP00000490627.1:n.*568+473_*568+474delinsGT
ENST00000636212.1:c.*335+473_*335+474delinsGT	ENSP00000489851.1:n.*335+473_*335+474delinsGT
ENST00000636674.1:n.1767+473_1767+474delinsGT
ENST00000636964.1:n.2193+473_2193+474delinsGT
ENST00000637054.1:c.198+9372_198+9373delinsGT	ENSP00000490807.1:n.198+9372_198+9373delinsGT
ENST00000637329.1:c.634+473_634+474delinsGT
ENST00000637450.1:c.*319+473_*319+474delinsGT	ENSP00000490204.1:n.*319+473_*319+474delinsGT
ENST00000637494.1:c.377+473_377+474delinsGT	ENSP00000490057.1:n.377+473_377+474delinsGT
ENST00000637667.1:c.566+473_566+474delinsGT	ENSP00000489843.1:n.566+473_566+474delinsGT
ENST00000637823.1:c.490+473_490+474delinsGT
ENST00000637888.1:c.198+9372_198+9373delinsGT	ENSP00000490546.1:n.198+9372_198+9373delinsGT
ENST00000638076.1:c.*268+473_*268+474delinsGT	ENSP00000490373.1:n.*268+473_*268+474delinsGT
ENST00000638144.1:n.308+473_308+474delinsGT
ENST00000646164.1:c.38+9372_38+9373delinsGT
ENST00000249806.9:c.665+473_665+474delinsGT	ENSP00000249806.5:n.665+473_665+474delinsGT
ENST00000538696.5:c.761+473_761+474delinsGT	ENSP00000445770.1:n.761+473_761+474delinsGT
ENST00000562767.1:c.84-11536_84-11535delinsGT	ENSP00000456336.1:n.84-11536_84-11535delinsGT
ENST00000564752.1:c.*49+473_*49+474delinsGT	ENSP00000457822.1:n.*49+473_*49+474delinsGT
ENST00000565471.5:c.206+473_206+474delinsGT	ENSP00000457384.1:n.206+473_206+474delinsGT
ENST00000566347.5:c.476+473_476+474delinsGT	ENSP00000457783.1:n.476+473_476+474delinsGT
ENST00000567060.5:c.*63+473_*63+474delinsGT	ENSP00000454818.1:n.*63+473_*63+474delinsGT
NM_017882.2:c.665+473_665+474delinsGT	NP_060352.1:n.665+473_665+474delinsGT
XR_931861.1:n.887+473_887+474delinsGT
NM_017882.3:c.665+473_665+474delinsGT MANE Select	NP_060352.1:n.665+473_665+474delinsGT