Canonical Allele Identifier: CA572962

Gene: CA6

Linked Data

• dbSNP Id: rs752069262
• ExAC: 1:9017253 T / TA
• gnomAD v2: 1-9017253-T-TA
• gnomAD v4: 1-8957194-T-TA
• MyVariant Identifiers: chr1:g.9017253_9017254insA (hg19) ; chr1:g.8957194_8957195insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957195dup , CM000663.2:g.8957195dup	GRCh38
NC_000001.10:g.9017254dup , CM000663.1:g.9017254dup	GRCh37
NC_000001.9:g.8939841dup	NCBI36
NG_033975.1:g.16362dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.318dup MANE Select	ENSP00000366662.2:p.Ala107SerfsTer19
ENST00000377436.6:c.318dup	ENSP00000366654.3:p.Ala107SerfsTer19
ENST00000377442.3:c.138dup	ENSP00000366661.2:p.Ala47SerfsTer19
ENST00000377443.6:c.318dup	ENSP00000366662.2:p.Ala107SerfsTer19
ENST00000476083.1:n.99-1715dup
ENST00000549778.5:c.222dup	ENSP00000447108.1:p.Ala75SerfsTer19
NM_001215.3:c.318dup	NP_001206.2:p.Ala107SerfsTer19
NM_001270500.1:c.318dup	NP_001257429.1:p.Ala107SerfsTer19
NM_001270501.1:c.138dup	NP_001257430.1:p.Ala47SerfsTer19
NM_001270502.1:c.25-1715dup	NP_001257431.1:n.25-1715dup
XM_011542083.1:c.330dup	XP_011540385.1:p.Ala111SerfsTer19
XM_011542084.1:c.330dup	XP_011540386.1:p.Ala111SerfsTer19
XM_011542083.3:c.330dup	XP_011540385.1:p.Ala111SerfsTer19
XM_011542084.3:c.330dup	XP_011540386.1:p.Ala111SerfsTer19
NM_001215.4:c.318dup MANE Select	NP_001206.2:p.Ala107SerfsTer19
NM_001270500.2:c.318dup	NP_001257429.1:p.Ala107SerfsTer19
NM_001270501.2:c.138dup	NP_001257430.1:p.Ala47SerfsTer19
NM_001270502.2:c.25-1715dup	NP_001257431.1:n.25-1715dup