Canonical Allele Identifier: CA1745206739

Gene: BPGM

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661778_134661779delinsCA , CM000669.2:g.134661778_134661779delinsCA	GRCh38
NC_000007.13:g.134346530_134346531delinsCA , CM000669.1:g.134346530_134346531delinsCA	GRCh37
NC_000007.12:g.133997070_133997071delinsCA	NCBI36
NG_012921.1:g.20000_20001delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.271_272delinsCA MANE Select	ENSP00000342032.3:p.His91=
ENST00000344924.7:c.271_272delinsCA	ENSP00000342032.3:p.His91=
ENST00000393132.2:c.271_272delinsCA	ENSP00000376840.2:p.His91=
ENST00000418040.5:c.271_272delinsCA	ENSP00000399838.1:p.His91=
NM_001293085.1:c.271_272delinsCA	NP_001280014.1:p.His91=
NM_001724.4:c.271_272delinsCA	NP_001715.1:p.His91=
NM_199186.2:c.271_272delinsCA	NP_954655.1:p.His91=
XM_011516527.1:c.271_272delinsCA	XP_011514829.1:p.His91=
XR_928017.1:n.6821-644_6821-643delinsTG
XM_011516527.2:c.271_272delinsCA	XP_011514829.1:p.His91=
NM_001724.5:c.271_272delinsCA MANE Select	NP_001715.1:p.His91=
NM_001293085.2:c.271_272delinsCA	NP_001280014.1:p.His91=
NM_199186.3:c.271_272delinsCA	NP_954655.1:p.His91=