Canonical Allele Identifier: CA616722875

Gene: HERC2

Linked Data

• gnomAD v2: 15-28530067-A-AAG
• gnomAD v3: 15-28284921-A-AAG
• gnomAD v4: 15-28284921-A-AAG
• MyVariant Identifiers: chr15:g.28530067_28530068insAG (hg19) ; chr15:g.28284921_28284922insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28284922_28284923insGA , CM000677.2:g.28284922_28284923insGA	GRCh38
NC_000015.9:g.28530068_28530069insGA , CM000677.1:g.28530068_28530069insGA	GRCh37
NC_000015.8:g.26203663_26203664insGA	NCBI36
NG_016355.1:g.42228_42229insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.323-4635_323-4634insCT MANE Select	ENSP00000261609.8:n.323-4635_323-4634insCT
ENST00000261609.11:c.323-4635_323-4634insCT	ENSP00000261609.7:n.323-4635_323-4634insCT
ENST00000564383.1:n.218-4635_218-4634insCT
ENST00000564734.5:c.*193-4635_*193-4634insCT	ENSP00000456237.1:n.*193-4635_*193-4634insCT
NM_004667.5:c.323-4635_323-4634insCT	NP_004658.3:n.323-4635_323-4634insCT
XM_005268276.3:c.209-4635_209-4634insCT	XP_005268333.1:n.209-4635_209-4634insCT
XM_005268277.3:c.209-4635_209-4634insCT	XP_005268334.1:n.209-4635_209-4634insCT
XM_006720726.2:c.323-4635_323-4634insCT	XP_006720789.1:n.323-4635_323-4634insCT
XM_006720727.2:c.323-4635_323-4634insCT	XP_006720790.1:n.323-4635_323-4634insCT
XM_011522133.1:c.322+7966_322+7967insCT	XP_011520435.1:n.322+7966_322+7967insCT
XM_011522135.1:c.323-4635_323-4634insCT	XP_011520437.1:n.323-4635_323-4634insCT
XM_011522136.1:c.323-4635_323-4634insCT	XP_011520438.1:n.323-4635_323-4634insCT
XM_011522137.1:c.323-4635_323-4634insCT	XP_011520439.1:n.323-4635_323-4634insCT
XR_931930.1:n.452-4635_452-4634insCT
XR_931931.1:n.452-4635_452-4634insCT
XM_005268276.5:c.209-4635_209-4634insCT	XP_005268333.1:n.209-4635_209-4634insCT
XM_006720726.3:c.323-4635_323-4634insCT	XP_006720789.1:n.323-4635_323-4634insCT
XM_006720727.3:c.323-4635_323-4634insCT	XP_006720790.1:n.323-4635_323-4634insCT
XM_017022695.1:c.209-4635_209-4634insCT	XP_016878184.1:n.209-4635_209-4634insCT
XM_017022696.1:c.209-4635_209-4634insCT	XP_016878185.1:n.209-4635_209-4634insCT
XR_001751410.1:n.453-4635_453-4634insCT
XR_931930.2:n.453-4635_453-4634insCT
NM_004667.6:c.323-4635_323-4634insCT MANE Select	NP_004658.3:n.323-4635_323-4634insCT