Canonical Allele Identifier: CA272383419

Gene: CLN6

Linked Data

• dbSNP Id: rs931610732
• gnomAD v3: 15-68209461-CAA-C
• gnomAD v4: 15-68209461-CAA-C
• MyVariant Identifiers: chr15:g.68501800_68501801del (hg19) ; chr15:g.68209462_68209463del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209463_68209464del , CM000677.2:g.68209463_68209464del	GRCh38
NC_000015.9:g.68501801_68501802del , CM000677.1:g.68501801_68501802del	GRCh37
NC_000015.8:g.66288855_66288856del	NCBI36
NG_008764.2:g.52749_52750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+174_665+175del MANE Select	ENSP00000249806.5:n.665+174_665+175del
ENST00000562767.2:c.84-11835_84-11834del	ENSP00000456336.1:n.84-11835_84-11834del
ENST00000563917.2:n.507+174_507+175del
ENST00000565471.6:c.206+174_206+175del	ENSP00000457384.1:n.206+174_206+175del
ENST00000635747.1:c.*568+174_*568+175del	ENSP00000490627.1:n.*568+174_*568+175del
ENST00000636212.1:c.*335+174_*335+175del	ENSP00000489851.1:n.*335+174_*335+175del
ENST00000636674.1:n.1767+174_1767+175del
ENST00000636964.1:n.2193+174_2193+175del
ENST00000637054.1:c.198+9073_198+9074del	ENSP00000490807.1:n.198+9073_198+9074del
ENST00000637329.1:c.634+174_634+175del
ENST00000637450.1:c.*319+174_*319+175del	ENSP00000490204.1:n.*319+174_*319+175del
ENST00000637494.1:c.377+174_377+175del	ENSP00000490057.1:n.377+174_377+175del
ENST00000637667.1:c.566+174_566+175del	ENSP00000489843.1:n.566+174_566+175del
ENST00000637823.1:c.490+174_490+175del
ENST00000637888.1:c.198+9073_198+9074del	ENSP00000490546.1:n.198+9073_198+9074del
ENST00000638076.1:c.*268+174_*268+175del	ENSP00000490373.1:n.*268+174_*268+175del
ENST00000638144.1:n.308+174_308+175del
ENST00000646164.1:c.38+9073_38+9074del
ENST00000249806.9:c.665+174_665+175del	ENSP00000249806.5:n.665+174_665+175del
ENST00000538696.5:c.761+174_761+175del	ENSP00000445770.1:n.761+174_761+175del
ENST00000562767.1:c.84-11835_84-11834del	ENSP00000456336.1:n.84-11835_84-11834del
ENST00000564752.1:c.*49+174_*49+175del	ENSP00000457822.1:n.*49+174_*49+175del
ENST00000565471.5:c.206+174_206+175del	ENSP00000457384.1:n.206+174_206+175del
ENST00000566347.5:c.476+174_476+175del	ENSP00000457783.1:n.476+174_476+175del
ENST00000567060.5:c.*63+174_*63+175del	ENSP00000454818.1:n.*63+174_*63+175del
NM_017882.2:c.665+174_665+175del	NP_060352.1:n.665+174_665+175del
XR_931861.1:n.887+174_887+175del
NM_017882.3:c.665+174_665+175del MANE Select	NP_060352.1:n.665+174_665+175del