Canonical Allele Identifier: CA2579549956
Gene: HCCS HGNC NCBI
ARHGAP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.11120904del , CM000685.2:g.11120904del GRCh38
NC_000023.10:g.11139024del , CM000685.1:g.11139024del GRCh37
NC_000023.9:g.11048945del NCBI36
NG_016460.1:g.14610del

Transcript Alleles

HGVS Amino-acid change
ENST00000380762.5:c.522-3del (HCCS) MANE Select ENSP00000370139.4:n.522-3del
ENST00000657361.1:c.1733-859del (ARHGAP6) ENSP00000499351.1:n.1733-859del
ENST00000321143.8:c.522-3del (HCCS) ENSP00000326579.4:n.522-3del
ENST00000380762.4:c.522-3del (HCCS) ENSP00000370139.4:n.522-3del
ENST00000380763.7:c.522-3del (HCCS) ENSP00000370140.3:n.522-3del
NM_001122608.2:c.522-3del (HCCS) NP_001116080.1:n.522-3del
NM_001171991.2:c.522-3del (HCCS) NP_001165462.1:n.522-3del
NM_005333.4:c.522-3del (HCCS) NP_005324.3:n.522-3del
XM_024452368.1:c.582-3del (HCCS) XP_024308136.1:n.582-3del
NM_005333.5:c.522-3del (HCCS) MANE Select NP_005324.3:n.522-3del
NM_001122608.3:c.522-3del (HCCS) NP_001116080.1:n.522-3del
NM_001171991.3:c.522-3del (HCCS) NP_001165462.1:n.522-3del