Canonical Allele Identifier: CA2501227827

Gene: BMPR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94935503_94935504insAATG , CM000666.2:g.94935503_94935504insAATG	GRCh38
NC_000004.11:g.95856654_95856655insAATG , CM000666.1:g.95856654_95856655insAATG	GRCh37
NC_000004.10:g.96075677_96075678insAATG	NCBI36
NG_009245.1:g.182527_182528insAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515059.6:c.-113+59603_-113+59604insAATG MANE Select	ENSP00000426617.1:n.-113+59603_-113+59604insAATG
ENST00000515059.5:c.-113+59603_-113+59604insAATG	ENSP00000426617.1:n.-113+59603_-113+59604insAATG
NM_001203.2:c.-113+59603_-113+59604insAATG	NP_001194.1:n.-113+59603_-113+59604insAATG
XM_011532201.1:c.-18+59603_-18+59604insAATG	XP_011530503.1:n.-18+59603_-18+59604insAATG
XM_011532201.2:c.-18+59603_-18+59604insAATG	XP_011530503.1:n.-18+59603_-18+59604insAATG
XM_017008558.1:c.-113+59603_-113+59604insAATG	XP_016864047.1:n.-113+59603_-113+59604insAATG
XM_017008559.1:c.-113+36453_-113+36454insAATG	XP_016864048.1:n.-113+36453_-113+36454insAATG
NM_001203.3:c.-113+59603_-113+59604insAATG MANE Select	NP_001194.1:n.-113+59603_-113+59604insAATG