Canonical Allele Identifier: CA2693090366
Gene: HCCS HGNC NCBI
ARHGAP6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.11120838del , CM000685.2:g.11120838del GRCh38
NC_000023.10:g.11138958del , CM000685.1:g.11138958del GRCh37
NC_000023.9:g.11048879del NCBI36
NG_016460.1:g.14544del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380762.5:c.522-69del (HCCS) MANE Select ENSP00000370139.4:n.522-69del
ENST00000657361.1:c.1733-788del (ARHGAP6) ENSP00000499351.1:n.1733-788del
ENST00000321143.8:c.522-69del (HCCS) ENSP00000326579.4:n.522-69del
ENST00000380762.4:c.522-69del (HCCS) ENSP00000370139.4:n.522-69del
ENST00000380763.7:c.522-69del (HCCS) ENSP00000370140.3:n.522-69del
NM_001122608.2:c.522-69del (HCCS) NP_001116080.1:n.522-69del
NM_001171991.2:c.522-69del (HCCS) NP_001165462.1:n.522-69del
NM_005333.4:c.522-69del (HCCS) NP_005324.3:n.522-69del
XM_024452368.1:c.582-69del (HCCS) XP_024308136.1:n.582-69del
NM_005333.5:c.522-69del (HCCS) MANE Select NP_005324.3:n.522-69del
NM_001122608.3:c.522-69del (HCCS) NP_001116080.1:n.522-69del
NM_001171991.3:c.522-69del (HCCS) NP_001165462.1:n.522-69del