Canonical Allele Identifier: CA740063687

Gene: CA6

Linked Data

• dbSNP Id: rs921217677
• gnomAD v4: 1-8957342-T-TTTTA
• MyVariant Identifiers: chr1:g.9017401_9017402insTTTA (hg19) ; chr1:g.8957342_8957343insTTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957354_8957357dup , CM000663.2:g.8957354_8957357dup	GRCh38
NC_000001.10:g.9017413_9017416dup , CM000663.1:g.9017413_9017416dup	GRCh37
NC_000001.9:g.8940000_8940003dup	NCBI36
NG_033975.1:g.16521_16524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.408+69_408+72dup MANE Select	ENSP00000366662.2:n.408+69_408+72dup
ENST00000377436.6:c.408+69_408+72dup	ENSP00000366654.3:n.408+69_408+72dup
ENST00000377442.3:c.228+69_228+72dup	ENSP00000366661.2:n.228+69_228+72dup
ENST00000377443.6:c.408+69_408+72dup	ENSP00000366662.2:n.408+69_408+72dup
ENST00000476083.1:n.99-1556_99-1553dup
ENST00000549778.5:c.312+69_312+72dup	ENSP00000447108.1:n.312+69_312+72dup
NM_001215.3:c.408+69_408+72dup	NP_001206.2:n.408+69_408+72dup
NM_001270500.1:c.408+69_408+72dup	NP_001257429.1:n.408+69_408+72dup
NM_001270501.1:c.228+69_228+72dup	NP_001257430.1:n.228+69_228+72dup
NM_001270502.1:c.25-1556_25-1553dup	NP_001257431.1:n.25-1556_25-1553dup
XM_011542083.1:c.420+69_420+72dup	XP_011540385.1:n.420+69_420+72dup
XM_011542084.1:c.420+69_420+72dup	XP_011540386.1:n.420+69_420+72dup
XM_011542083.3:c.420+69_420+72dup	XP_011540385.1:n.420+69_420+72dup
XM_011542084.3:c.420+69_420+72dup	XP_011540386.1:n.420+69_420+72dup
NM_001215.4:c.408+69_408+72dup MANE Select	NP_001206.2:n.408+69_408+72dup
NM_001270500.2:c.408+69_408+72dup	NP_001257429.1:n.408+69_408+72dup
NM_001270501.2:c.228+69_228+72dup	NP_001257430.1:n.228+69_228+72dup
NM_001270502.2:c.25-1556_25-1553dup	NP_001257431.1:n.25-1556_25-1553dup