Canonical Allele Identifier: CA2629164952

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211623-GGACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211627_68211630del , CM000677.2:g.68211627_68211630del	GRCh38
NC_000015.9:g.68503965_68503968del , CM000677.1:g.68503965_68503968del	GRCh37
NC_000015.8:g.66291019_66291022del	NCBI36
NG_008764.2:g.50585_50588del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.486+48_486+51del MANE Select	ENSP00000249806.5:n.486+48_486+51del
ENST00000562767.2:c.84-13999_84-13996del	ENSP00000456336.1:n.84-13999_84-13996del
ENST00000563917.2:n.328+48_328+51del
ENST00000565471.6:c.84-1868_84-1865del	ENSP00000457384.1:n.84-1868_84-1865del
ENST00000635747.1:c.*389+48_*389+51del	ENSP00000490627.1:n.*389+48_*389+51del
ENST00000636212.1:c.*85_*88del	ENSP00000489851.1:n.*85_*88del
ENST00000636314.1:c.183-309_183-306del	ENSP00000490295.1:n.183-309_183-306del
ENST00000636674.1:n.1517_1520del
ENST00000636964.1:n.1706_1709del
ENST00000637054.1:c.198+6909_198+6912del	ENSP00000490807.1:n.198+6909_198+6912del
ENST00000637223.1:c.*201-309_*201-306del	ENSP00000490010.1:n.*201-309_*201-306del
ENST00000637329.1:c.455+48_455+51del
ENST00000637450.1:c.*140+48_*140+51del	ENSP00000490204.1:n.*140+48_*140+51del
ENST00000637494.1:c.199-309_199-306del	ENSP00000490057.1:n.199-309_199-306del
ENST00000637667.1:c.387+48_387+51del	ENSP00000489843.1:n.387+48_387+51del
ENST00000637823.1:c.240_243del
ENST00000637888.1:c.198+6909_198+6912del	ENSP00000490546.1:n.198+6909_198+6912del
ENST00000638076.1:c.*18_*21del	ENSP00000490373.1:n.*18_*21del
ENST00000638144.1:n.130-309_130-306del
ENST00000646164.1:c.38+6909_38+6912del
ENST00000249806.9:c.486+48_486+51del	ENSP00000249806.5:n.486+48_486+51del
ENST00000538696.5:c.582+48_582+51del	ENSP00000445770.1:n.582+48_582+51del
ENST00000562767.1:c.84-13999_84-13996del	ENSP00000456336.1:n.84-13999_84-13996del
ENST00000563917.1:n.315_318del
ENST00000564752.1:c.512+22_512+25del	ENSP00000457822.1:n.512+22_512+25del
ENST00000565471.5:c.84-1868_84-1865del	ENSP00000457384.1:n.84-1868_84-1865del
ENST00000566347.5:c.298-309_298-306del	ENSP00000457783.1:n.298-309_298-306del
ENST00000567060.5:c.298-1907_298-1904del	ENSP00000454818.1:n.298-1907_298-1904del
NM_017882.2:c.486+48_486+51del	NP_060352.1:n.486+48_486+51del
XR_931861.1:n.637_640del
NM_017882.3:c.486+48_486+51del MANE Select	NP_060352.1:n.486+48_486+51del