Canonical Allele Identifier: CA178119102

Gene: CA8

Linked Data

• dbSNP Id: rs765420786
• gnomAD v3: 8-60192686-ATAT-A
• gnomAD v4: 8-60192686-ATAT-A
• MyVariant Identifiers: chr8:g.61105246_61105248del (hg19) ; chr8:g.60192687_60192689del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60192691_60192693del , CM000670.2:g.60192691_60192693del	GRCh38
NC_000008.10:g.61105250_61105252del , CM000670.1:g.61105250_61105252del	GRCh37
NC_000008.9:g.61267804_61267806del	NCBI36
NG_023193.1:g.93707_93709del
NG_023193.2:g.93707_93709del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317995.5:c.*36-2704_*36-2702del MANE Select	ENSP00000314407.4:n.*36-2704_*36-2702del
ENST00000317995.4:c.*36-2704_*36-2702del	ENSP00000314407.4:n.*36-2704_*36-2702del
NM_004056.4:c.*36-2704_*36-2702del	NP_004047.3:n.*36-2704_*36-2702del
XM_011517586.1:c.*36-2704_*36-2702del	XP_011515888.1:n.*36-2704_*36-2702del
NM_001321839.1:c.*36-2704_*36-2702del	NP_001308768.1:n.*36-2704_*36-2702del
NM_004056.5:c.*36-2704_*36-2702del	NP_004047.3:n.*36-2704_*36-2702del
NR_135821.1:n.1235-2704_1235-2702del
XM_017013818.1:c.*36-2704_*36-2702del	XP_016869307.1:n.*36-2704_*36-2702del
NM_004056.6:c.*36-2704_*36-2702del MANE Select	NP_004047.3:n.*36-2704_*36-2702del
NM_001321839.2:c.*36-2704_*36-2702del	NP_001308768.1:n.*36-2704_*36-2702del
NR_135821.2:n.1212-2704_1212-2702del