Canonical Allele Identifier: CA4665092

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22201198dup , CM000670.2:g.22201198dup	GRCh38
NC_000008.10:g.22058711dup , CM000670.1:g.22058711dup	GRCh37
NC_000008.9:g.22114656dup	NCBI36
NG_029659.1:g.41059dup

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.2108-605dup MANE Select	NP_006120.1:n.2108-605dup
ENST00000306385.10:c.2108-605dup MANE Select	ENSP00000305714.5:n.2108-605dup
NM_001199.4:c.2188dup MANE Plus Clinical	NP_001190.1:p.Gln730ProfsTer?
ENST00000306349.13:c.2188dup MANE Plus Clinical	ENSP00000306121.8:p.Gln730ProfsTer?
NM_001199.3:c.2188dup	NP_001190.1:p.Gln730ProfsTer?
NM_006129.4:c.2108-605dup	NP_006120.1:n.2108-605dup
NR_033403.1:n.2411-605dup
NR_033403.2:n.2179-605dup
NR_033404.1:n.2491dup
NR_033404.2:n.2259dup
ENST00000306349.12:c.2188dup	ENSP00000306121.8:p.Gln730ProfsTer?
ENST00000306385.9:c.2108-605dup	ENSP00000305714.5:n.2108-605dup
ENST00000354870.5:c.*1365-605dup	ENSP00000346941.5:n.*1365-605dup
ENST00000471755.5:c.*818dup	ENSP00000428665.1:n.*818dup
ENST00000483364.5:c.*1445dup	ENSP00000428249.1:n.*1445dup
ENST00000518913.5:c.*1655dup	ENSP00000427950.1:n.*1655dup
ENST00000520626.5:c.*2035dup	ENSP00000430015.1:n.*2035dup
ENST00000520626.6:c.*2035dup	ENSP00000430015.2:n.*2035dup
ENST00000520970.5:c.2188dup	ENSP00000428332.1:p.Gln730ProfsTer?
ENST00000520982.5:c.*1575-605dup	ENSP00000428798.1:n.*1575-605dup
ENST00000521385.5:c.*158dup	ENSP00000430406.1:n.*158dup
ENST00000522332.1:n.1053dup
XR_001745579.2:n.2396dup
XR_428315.2:n.2578dup
XR_949458.1:n.2481-605dup
XR_949458.2:n.2423-605dup