Canonical Allele Identifier: CA2804463261
Gene: HERC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.63623687_63623688del , CM000677.2:g.63623687_63623688del GRCh38
NC_000015.9:g.63915886_63915887del , CM000677.1:g.63915886_63915887del GRCh37
NC_000015.8:g.61702939_61702940del NCBI36
NG_046958.1:g.215263_215264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000443617.7:c.13611+38_13611+39del MANE Select ENSP00000390158.2:n.13611+38_13611+39del
ENST00000443617.6:c.13611+38_13611+39del ENSP00000390158.2:n.13611+38_13611+39del
ENST00000558324.1:c.774+38_774+39del
NM_003922.3:c.13611+38_13611+39del NP_003913.3:n.13611+38_13611+39del
XM_011522138.1:c.13689+38_13689+39del XP_011520440.1:n.13689+38_13689+39del
XM_011522139.1:c.13689+38_13689+39del XP_011520441.1:n.13689+38_13689+39del
XM_011522140.1:c.13689+38_13689+39del XP_011520442.1:n.13689+38_13689+39del
XM_011522141.1:c.13686+38_13686+39del XP_011520443.1:n.13686+38_13686+39del
XM_011522142.1:c.13686+38_13686+39del XP_011520444.1:n.13686+38_13686+39del
XM_011522143.1:c.13686+38_13686+39del XP_011520445.1:n.13686+38_13686+39del
XM_011522144.1:c.13668+38_13668+39del XP_011520446.1:n.13668+38_13668+39del
XM_011522145.1:c.13665+38_13665+39del XP_011520447.1:n.13665+38_13665+39del
XM_011522146.1:c.13662+38_13662+39del XP_011520448.1:n.13662+38_13662+39del
XM_011522147.1:c.13638+38_13638+39del XP_011520449.1:n.13638+38_13638+39del
XM_011522148.1:c.13689+38_13689+39del XP_011520450.1:n.13689+38_13689+39del
XR_931932.1:n.13668+471_13668+472del
XM_017022699.2:c.13755+38_13755+39del XP_016878188.1:n.13755+38_13755+39del
XM_017022700.2:c.13719+38_13719+39del XP_016878189.1:n.13719+38_13719+39del
XM_017022701.2:c.13704+38_13704+39del XP_016878190.1:n.13704+38_13704+39del
XM_017022702.2:c.13704+38_13704+39del XP_016878191.1:n.13704+38_13704+39del
XM_017022703.2:c.13701+38_13701+39del XP_016878192.1:n.13701+38_13701+39del
XM_017022704.2:c.13683+38_13683+39del XP_016878193.1:n.13683+38_13683+39del
XM_017022705.2:c.13677+38_13677+39del XP_016878194.1:n.13677+38_13677+39del
NM_003922.4:c.13611+38_13611+39del MANE Select NP_003913.3:n.13611+38_13611+39del