Canonical Allele Identifier: CA267957207

Gene: HERC2

Linked Data

• dbSNP Id: rs375790790
• gnomAD v2: 15-28530095-AG-A
• gnomAD v3: 15-28284949-AG-A
• gnomAD v4: 15-28284949-AG-A
• MyVariant Identifiers: chr15:g.28530096del (hg19) ; chr15:g.28530096_28530098delinsAT (hg19) ; chr15:g.28284950del (hg38) ; chr15:g.28284950_28284952delinsAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28284950del , CM000677.2:g.28284950del	GRCh38
NC_000015.9:g.28530096del , CM000677.1:g.28530096del	GRCh37
NC_000015.8:g.26203691del	NCBI36
NG_016355.1:g.42200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.323-4663del MANE Select	ENSP00000261609.8:n.323-4663del
ENST00000261609.11:c.323-4663del	ENSP00000261609.7:n.323-4663del
ENST00000564383.1:n.218-4663del
ENST00000564734.5:c.*193-4663del	ENSP00000456237.1:n.*193-4663del
NM_004667.5:c.323-4663del	NP_004658.3:n.323-4663del
XM_005268276.3:c.209-4663del	XP_005268333.1:n.209-4663del
XM_005268277.3:c.209-4663del	XP_005268334.1:n.209-4663del
XM_006720726.2:c.323-4663del	XP_006720789.1:n.323-4663del
XM_006720727.2:c.323-4663del	XP_006720790.1:n.323-4663del
XM_011522133.1:c.322+7938del	XP_011520435.1:n.322+7938del
XM_011522135.1:c.323-4663del	XP_011520437.1:n.323-4663del
XM_011522136.1:c.323-4663del	XP_011520438.1:n.323-4663del
XM_011522137.1:c.323-4663del	XP_011520439.1:n.323-4663del
XR_931930.1:n.452-4663del
XR_931931.1:n.452-4663del
XM_005268276.5:c.209-4663del	XP_005268333.1:n.209-4663del
XM_006720726.3:c.323-4663del	XP_006720789.1:n.323-4663del
XM_006720727.3:c.323-4663del	XP_006720790.1:n.323-4663del
XM_017022695.1:c.209-4663del	XP_016878184.1:n.209-4663del
XM_017022696.1:c.209-4663del	XP_016878185.1:n.209-4663del
XR_001751410.1:n.453-4663del
XR_931930.2:n.453-4663del
NM_004667.6:c.323-4663del MANE Select	NP_004658.3:n.323-4663del