Canonical Allele Identifier: CA1114403750

Gene: CA8

Linked Data

• dbSNP Id: rs1806155920
• gnomAD v3: 8-60192398-GT-G
• gnomAD v4: 8-60192398-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60192399del , CM000670.2:g.60192399del	GRCh38
NC_000008.10:g.61104958del , CM000670.1:g.61104958del	GRCh37
NC_000008.9:g.61267512del	NCBI36
NG_023193.1:g.93997del
NG_023193.2:g.93997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317995.5:c.*36-2414del MANE Select	ENSP00000314407.4:n.*36-2414del
ENST00000317995.4:c.*36-2414del	ENSP00000314407.4:n.*36-2414del
NM_004056.4:c.*36-2414del	NP_004047.3:n.*36-2414del
XM_011517586.1:c.*36-2414del	XP_011515888.1:n.*36-2414del
NM_001321839.1:c.*36-2414del	NP_001308768.1:n.*36-2414del
NM_004056.5:c.*36-2414del	NP_004047.3:n.*36-2414del
NR_135821.1:n.1235-2414del
XM_017013818.1:c.*36-2414del	XP_016869307.1:n.*36-2414del
NM_004056.6:c.*36-2414del MANE Select	NP_004047.3:n.*36-2414del
NM_001321839.2:c.*36-2414del	NP_001308768.1:n.*36-2414del
NR_135821.2:n.1212-2414del