Canonical Allele Identifier: CA2643090652

Gene: CA6

Linked Data

• gnomAD v4: 1-8957230-C-CCTCGGAGATCAGCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957234_8957248dup , CM000663.2:g.8957234_8957248dup	GRCh38
NC_000001.10:g.9017293_9017307dup , CM000663.1:g.9017293_9017307dup	GRCh37
NC_000001.9:g.8939880_8939894dup	NCBI36
NG_033975.1:g.16401_16415dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.357_371dup MANE Select	ENSP00000366662.2:p.Ser124_Glu125insGluIleSerGlySer
ENST00000377436.6:c.357_371dup	ENSP00000366654.3:p.Ser124_Glu125insGluIleSerGlySer
ENST00000377442.3:c.177_191dup	ENSP00000366661.2:p.Ser64_Glu65insGluIleSerGlySer
ENST00000377443.6:c.357_371dup	ENSP00000366662.2:p.Ser124_Glu125insGluIleSerGlySer
ENST00000476083.1:n.99-1676_99-1662dup
ENST00000549778.5:c.261_275dup	ENSP00000447108.1:p.Ser92_Glu93insGluIleSerGlySer
NM_001215.3:c.357_371dup	NP_001206.2:p.Ser124_Glu125insGluIleSerGlySer
NM_001270500.1:c.357_371dup	NP_001257429.1:p.Ser124_Glu125insGluIleSerGlySer
NM_001270501.1:c.177_191dup	NP_001257430.1:p.Ser64_Glu65insGluIleSerGlySer
NM_001270502.1:c.25-1676_25-1662dup	NP_001257431.1:n.25-1676_25-1662dup
XM_011542083.1:c.369_383dup	XP_011540385.1:p.Ser128_Glu129insGluIleSerGlySer
XM_011542084.1:c.369_383dup	XP_011540386.1:p.Ser128_Glu129insGluIleSerGlySer
XM_011542083.3:c.369_383dup	XP_011540385.1:p.Ser128_Glu129insGluIleSerGlySer
XM_011542084.3:c.369_383dup	XP_011540386.1:p.Ser128_Glu129insGluIleSerGlySer
NM_001215.4:c.357_371dup MANE Select	NP_001206.2:p.Ser124_Glu125insGluIleSerGlySer
NM_001270500.2:c.357_371dup	NP_001257429.1:p.Ser124_Glu125insGluIleSerGlySer
NM_001270501.2:c.177_191dup	NP_001257430.1:p.Ser64_Glu65insGluIleSerGlySer
NM_001270502.2:c.25-1676_25-1662dup	NP_001257431.1:n.25-1676_25-1662dup