Canonical Allele Identifier: CA4187547

Gene: GPNMB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23260632_23260635del , CM000669.2:g.23260632_23260635del	GRCh38
NC_000007.13:g.23300251_23300254del , CM000669.1:g.23300251_23300254del	GRCh37
NC_000007.12:g.23266776_23266779del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002510.3:c.877_880del MANE Select	NP_002501.1:p.Val293ProfsTer6
ENST00000258733.9:c.877_880del MANE Select	ENSP00000258733.5:p.Val293ProfsTer6
NM_001005340.1:c.877_880del	NP_001005340.1:p.Val293ProfsTer6
NM_001005340.2:c.877_880del	NP_001005340.1:p.Val293ProfsTer6
NM_002510.2:c.877_880del	NP_002501.1:p.Val293ProfsTer6
ENST00000258733.8:c.877_880del	ENSP00000258733.4:p.Val293ProfsTer6
ENST00000381990.6:c.877_880del	ENSP00000371420.2:p.Val293ProfsTer6
ENST00000647578.1:c.877_880del	ENSP00000497362.1:p.Val293ProfsTer6
XM_005249578.1:c.877_880del	XP_005249635.1:p.Val293ProfsTer6
XM_005249578.3:c.877_880del	XP_005249635.1:p.Val293ProfsTer6
XM_017011676.2:c.877_880del	XP_016867165.1:p.Val293ProfsTer6
XM_017011677.2:c.877_880del	XP_016867166.1:p.Val293ProfsTer6
XM_017011678.2:c.877_880del	XP_016867167.1:p.Val293ProfsTer6