Canonical Allele Identifier: CA614278085

Gene: BMP4

Linked Data

• dbSNP Id: rs1313419704
• gnomAD v2: 14-54417425-C-CATAACCTCATAAATGTTT
• gnomAD v4: 14-53950707-C-CATAACCTCATAAATGTTT
• MyVariant Identifiers: chr14:g.54417425_54417426insATAACCTCATAAATGTTT (hg19) ; chr14:g.53950707_53950708insATAACCTCATAAATGTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53950711_53950728dup , CM000676.2:g.53950711_53950728dup	GRCh38
NC_000014.8:g.54417429_54417446dup , CM000676.1:g.54417429_54417446dup	GRCh37
NC_000014.7:g.53487179_53487196dup	NCBI36
NG_009215.1:g.11112_11129dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000245451.9:c.534_551dup MANE Select	ENSP00000245451.4:p.Val183_Met184insIleAs...
ENST00000245451.8:c.534_551dup	ENSP00000245451.4:p.Val183_Met184insIleAs...
ENST00000417573.5:c.534_551dup	ENSP00000394165.1:p.Val183_Met184insIleAs...
ENST00000558961.1:c.392_409dup	ENSP00000453691.1:n.392_409dup
ENST00000558984.1:c.534_551dup	ENSP00000454134.1:p.Val183_Met184insIleAs...
ENST00000559087.5:c.534_551dup	ENSP00000453485.1:p.Val183_Met184insIleAs...
ENST00000559501.1:c.345_362dup	ENSP00000453365.1:p.Val120_Met121insIleAs...
NM_001202.3:c.534_551dup	NP_001193.2:p.Val183_Met184insIleAsnIleTy...
NM_130850.2:c.534_551dup	NP_570911.2:p.Val183_Met184insIleAsnIleTy...
NM_130851.2:c.534_551dup	NP_570912.2:p.Val183_Met184insIleAsnIleTy...
XM_005268015.3:c.534_551dup	XP_005268072.1:p.Val183_Met184insIleAsnIl...
NM_001202.5:c.534_551dup	NP_001193.2:p.Val183_Met184insIleAsnIleTy...
NM_001347912.1:c.675_692dup	NP_001334841.1:p.Val230_Met231insIleAsnIl...
NM_001347913.1:c.345_362dup	NP_001334842.1:p.Val120_Met121insIleAsnIl...
NM_001347914.1:c.534_551dup	NP_001334843.1:p.Val183_Met184insIleAsnIl...
NM_001347915.1:c.345_362dup	NP_001334844.1:p.Val120_Met121insIleAsnIl...
NM_001347916.1:c.534_551dup	NP_001334845.1:p.Val183_Met184insIleAsnIl...
NM_001347917.1:c.345_362dup	NP_001334846.1:p.Val120_Met121insIleAsnIl...
NM_130850.4:c.534_551dup	NP_570911.2:p.Val183_Met184insIleAsnIleTy...
NM_130851.3:c.534_551dup	NP_570912.2:p.Val183_Met184insIleAsnIleTy...
NM_001202.6:c.534_551dup MANE Select	NP_001193.2:p.Val183_Met184insIleAsnIleTy...
NM_130850.5:c.534_551dup	NP_570911.2:p.Val183_Met184insIleAsnIleTy...
NM_001347913.2:c.345_362dup	NP_001334842.1:p.Val120_Met121insIleAsnIl...
NM_001347914.2:c.534_551dup	NP_001334843.1:p.Val183_Met184insIleAsnIl...
NM_001347915.2:c.345_362dup	NP_001334844.1:p.Val120_Met121insIleAsnIl...
NM_130851.4:c.534_551dup	NP_570912.2:p.Val183_Met184insIleAsnIleTy...