Canonical Allele Identifier: CA267945888

Gene: HERC2

Linked Data

• dbSNP Id: rs377739906
• gnomAD v2: 15-28386386-CT-C
• gnomAD v3: 15-28141240-CT-C
• gnomAD v4: 15-28141240-CT-C
• MyVariant Identifiers: chr15:g.28386388del (hg19) ; chr15:g.28386387del (hg19) ; chr15:g.28141242del (hg38) ; chr15:g.28141241del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141253del , CM000677.2:g.28141253del	GRCh38
NC_000015.9:g.28386399del , CM000677.1:g.28386399del	GRCh37
NC_000015.8:g.26059994del	NCBI36
NG_016355.1:g.185909del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.12015+191del MANE Select	ENSP00000261609.8:n.12015+191del
ENST00000650509.1:c.3726+191del	ENSP00000496936.1:n.3726+191del
ENST00000261609.11:c.12015+191del	ENSP00000261609.7:n.12015+191del
NM_004667.5:c.12015+191del	NP_004658.3:n.12015+191del
XM_005268276.3:c.11901+191del	XP_005268333.1:n.11901+191del
XM_005268277.3:c.11901+191del	XP_005268334.1:n.11901+191del
XM_006720726.2:c.12000+191del	XP_006720789.1:n.12000+191del
XM_006720727.2:c.11757+191del	XP_006720790.1:n.11757+191del
XM_011522131.1:c.11532+191del	XP_011520433.1:n.11532+191del
XM_011522132.1:c.9531+191del	XP_011520434.1:n.9531+191del
XM_011522133.1:c.8760+191del	XP_011520435.1:n.8760+191del
XM_011522134.1:c.6132+191del	XP_011520436.1:n.6132+191del
XM_005268276.5:c.11901+191del	XP_005268333.1:n.11901+191del
XM_006720726.3:c.12000+191del	XP_006720789.1:n.12000+191del
XM_006720727.3:c.11757+191del	XP_006720790.1:n.11757+191del
XM_017022695.1:c.11901+191del	XP_016878184.1:n.11901+191del
XM_017022696.1:c.11901+191del	XP_016878185.1:n.11901+191del
XM_017022697.1:c.5181+191del	XP_016878186.1:n.5181+191del
XM_017022698.1:c.5181+191del	XP_016878187.1:n.5181+191del
NM_004667.6:c.12015+191del MANE Select	NP_004658.3:n.12015+191del