Canonical Allele Identifier: CA2778013812

Gene: BPGM

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661787del , CM000669.2:g.134661787del	GRCh38
NC_000007.13:g.134346539del , CM000669.1:g.134346539del	GRCh37
NC_000007.12:g.133997079del	NCBI36
NG_012921.1:g.20009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.280del MANE Select	ENSP00000342032.3:p.Ala94ProfsTer2
ENST00000344924.7:c.280del	ENSP00000342032.3:p.Ala94ProfsTer2
ENST00000393132.2:c.280del	ENSP00000376840.2:p.Ala94ProfsTer2
ENST00000418040.5:c.280del	ENSP00000399838.1:p.Ala94ProfsTer2
NM_001293085.1:c.280del	NP_001280014.1:p.Ala94ProfsTer2
NM_001724.4:c.280del	NP_001715.1:p.Ala94ProfsTer2
NM_199186.2:c.280del	NP_954655.1:p.Ala94ProfsTer2
XM_011516527.1:c.280del	XP_011514829.1:p.Ala94ProfsTer2
XR_928017.1:n.6821-649del
XM_011516527.2:c.280del	XP_011514829.1:p.Ala94ProfsTer2
NM_001724.5:c.280del MANE Select	NP_001715.1:p.Ala94ProfsTer2
NM_001293085.2:c.280del	NP_001280014.1:p.Ala94ProfsTer2
NM_199186.3:c.280del	NP_954655.1:p.Ala94ProfsTer2