Canonical Allele Identifier: CA2838197150

Gene: BGLAP PMF1-BGLAP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156242241dup , CM000663.2:g.156242241dup	GRCh38
NC_000001.10:g.156212032dup , CM000663.1:g.156212032dup	GRCh37
NC_000001.9:g.154478656dup	NCBI36
NG_047015.1:g.5082dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368272.5:c.10dup (BGLAP) MANE Select	ENSP00000357255.4:p.Leu4ProfsTer?
ENST00000320139.5:c.369-312dup (PMF1-BGLAP)	ENSP00000324909.5:n.369-312dup
ENST00000368272.4:c.10dup (BGLAP)	ENSP00000357255.4:p.Leu4ProfsTer?
ENST00000368276.8:c.504-312dup (PMF1-BGLAP)	ENSP00000357259.4:n.504-312dup
ENST00000471413.1:n.53dup (BGLAP)
ENST00000490491.5:c.565-312dup (PMF1-BGLAP)	ENSP00000475561.1:n.565-312dup
ENST00000567140.3:c.358-312dup (PMF1-BGLAP)	ENSP00000458021.2:n.358-312dup
NM_001199661.1:c.504-312dup (PMF1-BGLAP)	NP_001186590.1:n.504-312dup
NM_001199662.1:c.565-312dup (PMF1-BGLAP)	NP_001186591.1:n.565-312dup
NM_001199663.1:c.369-312dup (PMF1-BGLAP)	NP_001186592.1:n.369-312dup
NM_001199664.1:c.358-312dup (PMF1-BGLAP)	NP_001186593.1:n.358-312dup
NM_199173.4:c.10dup (BGLAP)	NP_954642.1:p.Leu4ProfsTer?
NM_199173.5:c.10dup (BGLAP)	NP_954642.1:p.Leu4ProfsTer?
NM_199173.6:c.10dup (BGLAP) MANE Select	NP_954642.1:p.Leu4ProfsTer?