Canonical Allele Identifier: CA1787831670
Gene: CA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60192648_60192652delinsCATAA , CM000670.2:g.60192648_60192652delinsCATAA GRCh38
NC_000008.10:g.61105207_61105211delinsCATAA , CM000670.1:g.61105207_61105211delinsCATAA GRCh37
NC_000008.9:g.61267761_61267765delinsCATAA NCBI36
NG_023193.1:g.93744_93748delinsTTATG
NG_023193.2:g.93744_93748delinsTTATG

Transcript Alleles

HGVS Amino-acid change
ENST00000317995.5:c.*36-2667_*36-2663delinsTTATG MANE Select ENSP00000314407.4:n.*36-2667_*36-2663deli...
ENST00000317995.4:c.*36-2667_*36-2663delinsTTATG ENSP00000314407.4:n.*36-2667_*36-2663deli...
NM_004056.4:c.*36-2667_*36-2663delinsTTATG NP_004047.3:n.*36-2667_*36-2663delinsTTAT...
XM_011517586.1:c.*36-2667_*36-2663delinsTTATG XP_011515888.1:n.*36-2667_*36-2663delinsT...
NM_001321839.1:c.*36-2667_*36-2663delinsTTATG NP_001308768.1:n.*36-2667_*36-2663delinsT...
NM_004056.5:c.*36-2667_*36-2663delinsTTATG NP_004047.3:n.*36-2667_*36-2663delinsTTAT...
NR_135821.1:n.1235-2667_1235-2663delinsTTATG
XM_017013818.1:c.*36-2667_*36-2663delinsTTATG XP_016869307.1:n.*36-2667_*36-2663delinsT...
NM_004056.6:c.*36-2667_*36-2663delinsTTATG MANE Select NP_004047.3:n.*36-2667_*36-2663delinsTTAT...
NM_001321839.2:c.*36-2667_*36-2663delinsTTATG NP_001308768.1:n.*36-2667_*36-2663delinsT...
NR_135821.2:n.1212-2667_1212-2663delinsTTATG