Canonical Allele Identifier: CA2533887921
Gene: BMPR1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935603_94935604insCTC , CM000666.2:g.94935603_94935604insCTC GRCh38
NC_000004.11:g.95856754_95856755insCTC , CM000666.1:g.95856754_95856755insCTC GRCh37
NC_000004.10:g.96075777_96075778insCTC NCBI36
NG_009245.1:g.182627_182628insCTC

Transcript Alleles

HGVS Amino-acid change
ENST00000515059.6:c.-113+59703_-113+59704insCTC MANE Select ENSP00000426617.1:n.-113+59703_-113+59704insCTC
ENST00000515059.5:c.-113+59703_-113+59704insCTC ENSP00000426617.1:n.-113+59703_-113+59704insCTC
NM_001203.2:c.-113+59703_-113+59704insCTC NP_001194.1:n.-113+59703_-113+59704insCTC
XM_011532201.1:c.-18+59703_-18+59704insCTC XP_011530503.1:n.-18+59703_-18+59704insCTC
XM_011532201.2:c.-18+59703_-18+59704insCTC XP_011530503.1:n.-18+59703_-18+59704insCTC
XM_017008558.1:c.-113+59703_-113+59704insCTC XP_016864047.1:n.-113+59703_-113+59704insCTC
XM_017008559.1:c.-113+36553_-113+36554insCTC XP_016864048.1:n.-113+36553_-113+36554insCTC
NM_001203.3:c.-113+59703_-113+59704insCTC MANE Select NP_001194.1:n.-113+59703_-113+59704insCTC