Canonical Allele Identifier: CA711776254

Gene: HERC2

Linked Data

• dbSNP Id: rs1375842137
• gnomAD v3: 15-28120434-TGATCCAAGAGGCGAGGCCA-T
• gnomAD v4: 15-28120434-TGATCCAAGAGGCGAGGCCA-T
• MyVariant Identifiers: chr15:g.28365581_28365599del (hg19) ; chr15:g.28120435_28120453del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28120436_28120454del , CM000677.2:g.28120436_28120454del	GRCh38
NC_000015.9:g.28365582_28365600del , CM000677.1:g.28365582_28365600del	GRCh37
NC_000015.8:g.26039177_26039195del	NCBI36
NG_016355.1:g.206697_206715del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.13272+893_13272+911del MANE Select	ENSP00000261609.8:n.13272+893_13272+911de...
ENST00000650509.1:c.4751+893_4751+911del	ENSP00000496936.1:n.4751+893_4751+911del
ENST00000261609.11:c.13272+893_13272+911del	ENSP00000261609.7:n.13272+893_13272+911de...
NM_004667.5:c.13272+893_13272+911del	NP_004658.3:n.13272+893_13272+911del
XM_005268276.3:c.13158+893_13158+911del	XP_005268333.1:n.13158+893_13158+911del
XM_005268277.3:c.13158+893_13158+911del	XP_005268334.1:n.13158+893_13158+911del
XM_006720726.2:c.13257+893_13257+911del	XP_006720789.1:n.13257+893_13257+911del
XM_006720727.2:c.13014+893_13014+911del	XP_006720790.1:n.13014+893_13014+911del
XM_011522131.1:c.12789+893_12789+911del	XP_011520433.1:n.12789+893_12789+911del
XM_011522132.1:c.10788+893_10788+911del	XP_011520434.1:n.10788+893_10788+911del
XM_011522133.1:c.10017+893_10017+911del	XP_011520435.1:n.10017+893_10017+911del
XM_011522134.1:c.7389+893_7389+911del	XP_011520436.1:n.7389+893_7389+911del
XM_005268276.5:c.13158+893_13158+911del	XP_005268333.1:n.13158+893_13158+911del
XM_006720726.3:c.13257+893_13257+911del	XP_006720789.1:n.13257+893_13257+911del
XM_006720727.3:c.13014+893_13014+911del	XP_006720790.1:n.13014+893_13014+911del
XM_017022695.1:c.13158+893_13158+911del	XP_016878184.1:n.13158+893_13158+911del
XM_017022696.1:c.13158+893_13158+911del	XP_016878185.1:n.13158+893_13158+911del
XM_017022697.1:c.6438+893_6438+911del	XP_016878186.1:n.6438+893_6438+911del
XM_017022698.1:c.6438+893_6438+911del	XP_016878187.1:n.6438+893_6438+911del
NM_004667.6:c.13272+893_13272+911del MANE Select	NP_004658.3:n.13272+893_13272+911del