Canonical Allele Identifier: CA998404400

Gene: CA6

Linked Data

• dbSNP Id: rs1639716219
• gnomAD v3: 1-8957340-CTTTT-C
• gnomAD v4: 1-8957340-CTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957342_8957345del , CM000663.2:g.8957342_8957345del	GRCh38
NC_000001.10:g.9017401_9017404del , CM000663.1:g.9017401_9017404del	GRCh37
NC_000001.9:g.8939988_8939991del	NCBI36
NG_033975.1:g.16509_16512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.408+57_408+60del MANE Select	ENSP00000366662.2:n.408+57_408+60del
ENST00000377436.6:c.408+57_408+60del	ENSP00000366654.3:n.408+57_408+60del
ENST00000377442.3:c.228+57_228+60del	ENSP00000366661.2:n.228+57_228+60del
ENST00000377443.6:c.408+57_408+60del	ENSP00000366662.2:n.408+57_408+60del
ENST00000476083.1:n.99-1568_99-1565del
ENST00000549778.5:c.312+57_312+60del	ENSP00000447108.1:n.312+57_312+60del
NM_001215.3:c.408+57_408+60del	NP_001206.2:n.408+57_408+60del
NM_001270500.1:c.408+57_408+60del	NP_001257429.1:n.408+57_408+60del
NM_001270501.1:c.228+57_228+60del	NP_001257430.1:n.228+57_228+60del
NM_001270502.1:c.25-1568_25-1565del	NP_001257431.1:n.25-1568_25-1565del
XM_011542083.1:c.420+57_420+60del	XP_011540385.1:n.420+57_420+60del
XM_011542084.1:c.420+57_420+60del	XP_011540386.1:n.420+57_420+60del
XM_011542083.3:c.420+57_420+60del	XP_011540385.1:n.420+57_420+60del
XM_011542084.3:c.420+57_420+60del	XP_011540386.1:n.420+57_420+60del
NM_001215.4:c.408+57_408+60del MANE Select	NP_001206.2:n.408+57_408+60del
NM_001270500.2:c.408+57_408+60del	NP_001257429.1:n.408+57_408+60del
NM_001270501.2:c.228+57_228+60del	NP_001257430.1:n.228+57_228+60del
NM_001270502.2:c.25-1568_25-1565del	NP_001257431.1:n.25-1568_25-1565del