Canonical Allele Identifier: CA4187399

Gene: GPNMB

Linked Data

• dbSNP Id: rs765420850
• ExAC: 7:23296649 GA / G
• gnomAD v2: 7-23296649-GA-G
• gnomAD v3: 7-23257030-GA-G
• gnomAD v4: 7-23257030-GA-G
• MyVariant Identifiers: chr7:g.23296650del (hg19) ; chr7:g.23257031del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23257032del , CM000669.2:g.23257032del	GRCh38
NC_000007.13:g.23296651del , CM000669.1:g.23296651del	GRCh37
NC_000007.12:g.23263176del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258733.9:c.508del MANE Select	ENSP00000258733.5:p.Arg170AspfsTer23
ENST00000647578.1:c.508del	ENSP00000497362.1:p.Arg170AspfsTer23
ENST00000258733.8:c.508del	ENSP00000258733.4:p.Arg170AspfsTer23
ENST00000381990.6:c.508del	ENSP00000371420.2:p.Arg170AspfsTer23
ENST00000409458.3:c.508del	ENSP00000386476.3:p.Arg170AspfsTer26
ENST00000465673.5:n.686del
ENST00000492858.6:n.710del
NM_001005340.1:c.508del	NP_001005340.1:p.Arg170AspfsTer23
NM_002510.2:c.508del	NP_002501.1:p.Arg170AspfsTer23
XM_005249578.1:c.508del	XP_005249635.1:p.Arg170AspfsTer23
XM_005249578.3:c.508del	XP_005249635.1:p.Arg170AspfsTer23
XM_017011676.2:c.508del	XP_016867165.1:p.Arg170AspfsTer23
XM_017011677.2:c.508del	XP_016867166.1:p.Arg170AspfsTer23
XM_017011678.2:c.508del	XP_016867167.1:p.Arg170AspfsTer23
NM_001005340.2:c.508del	NP_001005340.1:p.Arg170AspfsTer23
NM_002510.3:c.508del MANE Select	NP_002501.1:p.Arg170AspfsTer23