Canonical Allele Identifier: CA2671391596

Gene: HERC5

Linked Data

• gnomAD v4: 4-88499788-T-TACGCAGAGAAAGAGGTGCTGTGAACTATACCTGACCTCATACCTTCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88499790_88499837dup , CM000666.2:g.88499790_88499837dup	GRCh38
NC_000004.11:g.89420941_89420988dup , CM000666.1:g.89420941_89420988dup	GRCh37
NC_000004.10:g.89639964_89640011dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264350.8:c.2445-136_2445-89dup MANE Select	ENSP00000264350.3:n.2445-136_2445-89dup
ENST00000264350.7:c.2445-136_2445-89dup	ENSP00000264350.3:n.2445-136_2445-89dup
ENST00000502913.1:n.1166-136_1166-89dup
ENST00000508159.1:c.1359-136_1359-89dup	ENSP00000424129.1:n.1359-136_1359-89dup
ENST00000510223.5:n.1933-136_1933-89dup
NM_016323.3:c.2445-136_2445-89dup	NP_057407.2:n.2445-136_2445-89dup
XM_011532022.1:c.2220-136_2220-89dup	XP_011530324.1:n.2220-136_2220-89dup
XM_011532023.1:c.2157-136_2157-89dup	XP_011530325.1:n.2157-136_2157-89dup
XM_011532022.2:c.2673-136_2673-89dup	XP_011530324.2:n.2673-136_2673-89dup
NM_016323.4:c.2445-136_2445-89dup MANE Select	NP_057407.2:n.2445-136_2445-89dup