Canonical Allele Identifier: CA2628884901
Gene: HERC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.63623638_63623639del , CM000677.2:g.63623638_63623639del GRCh38
NC_000015.9:g.63915837_63915838del , CM000677.1:g.63915837_63915838del GRCh37
NC_000015.8:g.61702890_61702891del NCBI36
NG_046958.1:g.215314_215315del

Transcript Alleles

HGVS Amino-acid Change
ENST00000443617.7:c.13611+89_13611+90del MANE Select ENSP00000390158.2:n.13611+89_13611+90del
ENST00000443617.6:c.13611+89_13611+90del ENSP00000390158.2:n.13611+89_13611+90del
ENST00000558324.1:c.774+89_774+90del
NM_003922.3:c.13611+89_13611+90del NP_003913.3:n.13611+89_13611+90del
XM_011522138.1:c.13689+89_13689+90del XP_011520440.1:n.13689+89_13689+90del
XM_011522139.1:c.13689+89_13689+90del XP_011520441.1:n.13689+89_13689+90del
XM_011522140.1:c.13689+89_13689+90del XP_011520442.1:n.13689+89_13689+90del
XM_011522141.1:c.13686+89_13686+90del XP_011520443.1:n.13686+89_13686+90del
XM_011522142.1:c.13686+89_13686+90del XP_011520444.1:n.13686+89_13686+90del
XM_011522143.1:c.13686+89_13686+90del XP_011520445.1:n.13686+89_13686+90del
XM_011522144.1:c.13668+89_13668+90del XP_011520446.1:n.13668+89_13668+90del
XM_011522145.1:c.13665+89_13665+90del XP_011520447.1:n.13665+89_13665+90del
XM_011522146.1:c.13662+89_13662+90del XP_011520448.1:n.13662+89_13662+90del
XM_011522147.1:c.13638+89_13638+90del XP_011520449.1:n.13638+89_13638+90del
XM_011522148.1:c.13689+89_13689+90del XP_011520450.1:n.13689+89_13689+90del
XR_931932.1:n.13668+522_13668+523del
XM_017022699.2:c.13755+89_13755+90del XP_016878188.1:n.13755+89_13755+90del
XM_017022700.2:c.13719+89_13719+90del XP_016878189.1:n.13719+89_13719+90del
XM_017022701.2:c.13704+89_13704+90del XP_016878190.1:n.13704+89_13704+90del
XM_017022702.2:c.13704+89_13704+90del XP_016878191.1:n.13704+89_13704+90del
XM_017022703.2:c.13701+89_13701+90del XP_016878192.1:n.13701+89_13701+90del
XM_017022704.2:c.13683+89_13683+90del XP_016878193.1:n.13683+89_13683+90del
XM_017022705.2:c.13677+89_13677+90del XP_016878194.1:n.13677+89_13677+90del
NM_003922.4:c.13611+89_13611+90del MANE Select NP_003913.3:n.13611+89_13611+90del