Canonical Allele Identifier: CA1477857977

Gene: BMPR1B

Linked Data

• dbSNP Id: rs1729264791

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94935628_94935629insTCTTTTCCT , CM000666.2:g.94935628_94935629insTCTTTTCCT	GRCh38
NC_000004.11:g.95856779_95856780insTCTTTTCCT , CM000666.1:g.95856779_95856780insTCTTTTCCT	GRCh37
NC_000004.10:g.96075802_96075803insTCTTTTCCT	NCBI36
NG_009245.1:g.182652_182653insTCTTTTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515059.6:c.-113+59728_-113+59729insTCTTTTCCT MANE Select	ENSP00000426617.1:n.-113+59728_-113+59729insTCTTTTCCT
ENST00000515059.5:c.-113+59728_-113+59729insTCTTTTCCT	ENSP00000426617.1:n.-113+59728_-113+59729insTCTTTTCCT
NM_001203.2:c.-113+59728_-113+59729insTCTTTTCCT	NP_001194.1:n.-113+59728_-113+59729insTCTTTTCCT
XM_011532201.1:c.-18+59728_-18+59729insTCTTTTCCT	XP_011530503.1:n.-18+59728_-18+59729insTCTTTTCCT
XM_011532201.2:c.-18+59728_-18+59729insTCTTTTCCT	XP_011530503.1:n.-18+59728_-18+59729insTCTTTTCCT
XM_017008558.1:c.-113+59728_-113+59729insTCTTTTCCT	XP_016864047.1:n.-113+59728_-113+59729insTCTTTTCCT
XM_017008559.1:c.-113+36578_-113+36579insTCTTTTCCT	XP_016864048.1:n.-113+36578_-113+36579insTCTTTTCCT
NM_001203.3:c.-113+59728_-113+59729insTCTTTTCCT MANE Select	NP_001194.1:n.-113+59728_-113+59729insTCTTTTCCT