Canonical Allele Identifier: CA4187613

Gene: GPNMB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23266554del , CM000669.2:g.23266554del	GRCh38
NC_000007.13:g.23306173del , CM000669.1:g.23306173del	GRCh37
NC_000007.12:g.23272698del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002510.3:c.1056del MANE Select	NP_002501.1:p.Pro353LeufsTer20
ENST00000258733.9:c.1056del MANE Select	ENSP00000258733.5:p.Pro353LeufsTer20
NM_001005340.1:c.1092del	NP_001005340.1:p.Pro365LeufsTer20
NM_001005340.2:c.1092del	NP_001005340.1:p.Pro365LeufsTer20
NM_002510.2:c.1056del	NP_002501.1:p.Pro353LeufsTer20
ENST00000258733.8:c.1056del	ENSP00000258733.4:p.Pro353LeufsTer20
ENST00000381990.6:c.1092del	ENSP00000371420.2:p.Pro365LeufsTer20
ENST00000479625.1:n.415del
ENST00000647578.1:c.1140del	ENSP00000497362.1:p.Pro381LeufsTer20
XM_005249578.1:c.1092del	XP_005249635.1:p.Pro365LeufsTer20
XM_005249578.3:c.1092del	XP_005249635.1:p.Pro365LeufsTer20
XM_017011676.2:c.1176del	XP_016867165.1:p.Pro393LeufsTer20
XM_017011677.2:c.1176del	XP_016867166.1:p.Pro393LeufsTer20
XM_017011678.2:c.1056del	XP_016867167.1:p.Pro353LeufsTer20