Canonical Allele Identifier: CA2628884916

Gene: HERC1

Linked Data

• gnomAD v4: 15-63623647-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63623648_63623649del , CM000677.2:g.63623648_63623649del	GRCh38
NC_000015.9:g.63915847_63915848del , CM000677.1:g.63915847_63915848del	GRCh37
NC_000015.8:g.61702900_61702901del	NCBI36
NG_046958.1:g.215301_215302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443617.7:c.13611+76_13611+77del MANE Select	ENSP00000390158.2:n.13611+76_13611+77del
ENST00000443617.6:c.13611+76_13611+77del	ENSP00000390158.2:n.13611+76_13611+77del
ENST00000558324.1:c.774+76_774+77del
NM_003922.3:c.13611+76_13611+77del	NP_003913.3:n.13611+76_13611+77del
XM_011522138.1:c.13689+76_13689+77del	XP_011520440.1:n.13689+76_13689+77del
XM_011522139.1:c.13689+76_13689+77del	XP_011520441.1:n.13689+76_13689+77del
XM_011522140.1:c.13689+76_13689+77del	XP_011520442.1:n.13689+76_13689+77del
XM_011522141.1:c.13686+76_13686+77del	XP_011520443.1:n.13686+76_13686+77del
XM_011522142.1:c.13686+76_13686+77del	XP_011520444.1:n.13686+76_13686+77del
XM_011522143.1:c.13686+76_13686+77del	XP_011520445.1:n.13686+76_13686+77del
XM_011522144.1:c.13668+76_13668+77del	XP_011520446.1:n.13668+76_13668+77del
XM_011522145.1:c.13665+76_13665+77del	XP_011520447.1:n.13665+76_13665+77del
XM_011522146.1:c.13662+76_13662+77del	XP_011520448.1:n.13662+76_13662+77del
XM_011522147.1:c.13638+76_13638+77del	XP_011520449.1:n.13638+76_13638+77del
XM_011522148.1:c.13689+76_13689+77del	XP_011520450.1:n.13689+76_13689+77del
XR_931932.1:n.13668+509_13668+510del
XM_017022699.2:c.13755+76_13755+77del	XP_016878188.1:n.13755+76_13755+77del
XM_017022700.2:c.13719+76_13719+77del	XP_016878189.1:n.13719+76_13719+77del
XM_017022701.2:c.13704+76_13704+77del	XP_016878190.1:n.13704+76_13704+77del
XM_017022702.2:c.13704+76_13704+77del	XP_016878191.1:n.13704+76_13704+77del
XM_017022703.2:c.13701+76_13701+77del	XP_016878192.1:n.13701+76_13701+77del
XM_017022704.2:c.13683+76_13683+77del	XP_016878193.1:n.13683+76_13683+77del
XM_017022705.2:c.13677+76_13677+77del	XP_016878194.1:n.13677+76_13677+77del
NM_003922.4:c.13611+76_13611+77del MANE Select	NP_003913.3:n.13611+76_13611+77del