Canonical Allele Identifier: CA2624918702

Gene: BMP4

Linked Data

• gnomAD v4: 14-53952196-C-CATCA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53952197_53952200dup , CM000676.2:g.53952197_53952200dup	GRCh38
NC_000014.8:g.54418915_54418918dup , CM000676.1:g.54418915_54418918dup	GRCh37
NC_000014.7:g.53488665_53488668dup	NCBI36
NG_009215.1:g.9637_9640dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.23_26dup MANE Select	ENSP00000245451.4:p.Met9IlefsTer18
ENST00000245451.8:c.23_26dup	ENSP00000245451.4:p.Met9IlefsTer18
ENST00000417573.5:c.23_26dup	ENSP00000394165.1:p.Met9IlefsTer18
ENST00000558984.1:c.23_26dup	ENSP00000454134.1:p.Met9IlefsTer18
ENST00000559087.5:c.23_26dup	ENSP00000453485.1:p.Met9IlefsTer18
ENST00000559501.1:c.-143-24_-143-21dup	ENSP00000453365.1:n.-143-24_-143-21dup
ENST00000559642.1:c.23_26dup	ENSP00000453467.1:p.Met9IlefsTer18
NM_001202.3:c.23_26dup	NP_001193.2:p.Met9IlefsTer18
NM_130850.2:c.23_26dup	NP_570911.2:p.Met9IlefsTer18
NM_130851.2:c.23_26dup	NP_570912.2:p.Met9IlefsTer18
XM_005268015.3:c.23_26dup	XP_005268072.1:p.Met9IlefsTer18
NM_001202.5:c.23_26dup	NP_001193.2:p.Met9IlefsTer18
NM_001347912.1:c.188-24_188-21dup	NP_001334841.1:n.188-24_188-21dup
NM_001347913.1:c.-143-24_-143-21dup	NP_001334842.1:n.-143-24_-143-21dup
NM_001347914.1:c.23_26dup	NP_001334843.1:p.Met9IlefsTer18
NM_001347915.1:c.-143-24_-143-21dup	NP_001334844.1:n.-143-24_-143-21dup
NM_001347916.1:c.23_26dup	NP_001334845.1:p.Met9IlefsTer18
NM_001347917.1:c.-143-24_-143-21dup	NP_001334846.1:n.-143-24_-143-21dup
NM_130850.4:c.23_26dup	NP_570911.2:p.Met9IlefsTer18
NM_130851.3:c.23_26dup	NP_570912.2:p.Met9IlefsTer18
NM_001202.6:c.23_26dup MANE Select	NP_001193.2:p.Met9IlefsTer18
NM_130850.5:c.23_26dup	NP_570911.2:p.Met9IlefsTer18
NM_001347913.2:c.-143-24_-143-21dup	NP_001334842.1:n.-143-24_-143-21dup
NM_001347914.2:c.23_26dup	NP_001334843.1:p.Met9IlefsTer18
NM_001347915.2:c.-143-24_-143-21dup	NP_001334844.1:n.-143-24_-143-21dup
NM_130851.4:c.23_26dup	NP_570912.2:p.Met9IlefsTer18