Canonical Allele Identifier: CA656199680

Gene: CLN6

Linked Data

• dbSNP Id: rs1273294160
• gnomAD v3: 15-68208059-AC-A
• gnomAD v4: 15-68208059-AC-A
• COSMIC: COSN18738479 ; COSN18738480 ; COSN18738525 ; COSN18738526 ; COSN18738759 ; COSN18738760 ; COSN20071821 ; COSN20071822
• MyVariant Identifiers: chr15:g.68500398del (hg19) ; chr15:g.68208060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208066del , CM000677.2:g.68208066del	GRCh38
NC_000015.9:g.68500404del , CM000677.1:g.68500404del	GRCh37
NC_000015.8:g.66287458del	NCBI36
NG_008764.2:g.54152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*80del MANE Select	ENSP00000249806.5:n.*80del
ENST00000562767.2:c.84-10432del	ENSP00000456336.1:n.84-10432del
ENST00000565471.6:c.*80del	ENSP00000457384.1:n.*80del
ENST00000636964.1:n.2544del
ENST00000637054.1:c.199-10432del	ENSP00000490807.1:n.199-10432del
ENST00000637329.1:c.985del
ENST00000637888.1:c.199-10432del	ENSP00000490546.1:n.199-10432del
ENST00000638076.1:c.*619del	ENSP00000490373.1:n.*619del
ENST00000646164.1:c.39-8379del
ENST00000249806.9:c.*80del	ENSP00000249806.5:n.*80del
ENST00000562767.1:c.84-10432del	ENSP00000456336.1:n.84-10432del
ENST00000565471.5:c.*80del	ENSP00000457384.1:n.*80del
ENST00000566347.5:c.*80del	ENSP00000457783.1:n.*80del
ENST00000567060.5:c.*414del	ENSP00000454818.1:n.*414del
NM_017882.2:c.*80del	NP_060352.1:n.*80del
NM_017882.3:c.*80del MANE Select	NP_060352.1:n.*80del