Canonical Allele Identifier: CA16619011
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 422244
ClinVar RCV Id: RCV000484302
dbSNP Id: rs1064795654
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86921596_86921597delinsTTTC , CM000672.2:g.86921596_86921597delinsTTTC GRCh38
NC_000010.10:g.88681353_88681354delinsTTTC , CM000672.1:g.88681353_88681354delinsTTTC GRCh37
NC_000010.9:g.88671333_88671334delinsTTTC NCBI36
NG_009362.1:g.169958_169959delinsTTTC , LRG_298:g.169958_169959delinsTTTC

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.1243_1244delinsTTTC ENSP00000483569.2:p.Glu415PhefsTer4
ENST00000635816.2:c.1243_1244delinsTTTC ENSP00000489707.1:p.Glu415PhefsTer4
ENST00000636056.2:c.1243_1244delinsTTTC ENSP00000490273.1:p.Glu415PhefsTer4
ENST00000372037.8:c.1243_1244delinsTTTC MANE Select ENSP00000361107.2:p.Glu415PhefsTer4
ENST00000635816.1:c.1243_1244delinsTTTC ENSP00000489707.1:p.Glu415PhefsTer4
ENST00000636056.1:c.1243_1244delinsTTTC ENSP00000490273.1:p.Glu415PhefsTer4
ENST00000638429.1:c.1243_1244delinsTTTC ENSP00000492290.1:p.Glu415PhefsTer4
ENST00000372037.7:c.1243_1244delinsTTTC ENSP00000361107.1:p.Glu415PhefsTer4
NM_004329.2:c.1243_1244delinsTTTC , LRG_298t1:c.1243_1244delinsTTTC NP_004320.2:p.Glu415PhefsTer4
XM_011540103.1:c.1243_1244delinsTTTC XP_011538405.1:p.Glu415PhefsTer4
XM_011540104.1:c.1243_1244delinsTTTC XP_011538406.1:p.Glu415PhefsTer4
XM_011540103.2:c.1243_1244delinsTTTC XP_011538405.1:p.Glu415PhefsTer4
XM_011540104.2:c.1243_1244delinsTTTC XP_011538406.1:p.Glu415PhefsTer4
NM_004329.3:c.1243_1244delinsTTTC MANE Select NP_004320.2:p.Glu415PhefsTer4
Search 100 bp 5'
Search 100 bp 3'