Canonical Allele Identifier: CA415858919

Gene: CA6

Linked Data

• dbSNP Id: rs1374919306
• gnomAD v2: 1-9017333-CAT-C
• gnomAD v3: 1-8957274-CAT-C
• gnomAD v4: 1-8957274-CAT-C
• MyVariant Identifiers: chr1:g.9017334_9017335del (hg19) ; chr1:g.8957275_8957276del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957275_8957276del , CM000663.2:g.8957275_8957276del	GRCh38
NC_000001.10:g.9017334_9017335del , CM000663.1:g.9017334_9017335del	GRCh37
NC_000001.9:g.8939921_8939922del	NCBI36
NG_033975.1:g.16442_16443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.398_399del MANE Select	ENSP00000366662.2:p.His133ArgfsTer12
ENST00000377436.6:c.398_399del	ENSP00000366654.3:p.His133ArgfsTer12
ENST00000377442.3:c.218_219del	ENSP00000366661.2:p.His73ArgfsTer12
ENST00000377443.6:c.398_399del	ENSP00000366662.2:p.His133ArgfsTer12
ENST00000476083.1:n.99-1635_99-1634del
ENST00000549778.5:c.302_303del	ENSP00000447108.1:p.His101ArgfsTer12
NM_001215.3:c.398_399del	NP_001206.2:p.His133ArgfsTer12
NM_001270500.1:c.398_399del	NP_001257429.1:p.His133ArgfsTer12
NM_001270501.1:c.218_219del	NP_001257430.1:p.His73ArgfsTer12
NM_001270502.1:c.25-1635_25-1634del	NP_001257431.1:n.25-1635_25-1634del
XM_011542083.1:c.410_411del	XP_011540385.1:p.His137ArgfsTer12
XM_011542084.1:c.410_411del	XP_011540386.1:p.His137ArgfsTer12
XM_011542083.3:c.410_411del	XP_011540385.1:p.His137ArgfsTer12
XM_011542084.3:c.410_411del	XP_011540386.1:p.His137ArgfsTer12
NM_001215.4:c.398_399del MANE Select	NP_001206.2:p.His133ArgfsTer12
NM_001270500.2:c.398_399del	NP_001257429.1:p.His133ArgfsTer12
NM_001270501.2:c.218_219del	NP_001257430.1:p.His73ArgfsTer12
NM_001270502.2:c.25-1635_25-1634del	NP_001257431.1:n.25-1635_25-1634del