Canonical Allele Identifier: CA1477875606
Gene: BMPR1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935432_94935435delinsCGTT , CM000666.2:g.94935432_94935435delinsCGTT GRCh38
NC_000004.11:g.95856583_95856586delinsCGTT , CM000666.1:g.95856583_95856586delinsCGTT GRCh37
NC_000004.10:g.96075606_96075609delinsCGTT NCBI36
NG_009245.1:g.182456_182459delinsCGTT

Transcript Alleles

HGVS Amino-acid change
ENST00000515059.6:c.-113+59532_-113+59535delinsCGTT MANE Select ENSP00000426617.1:n.-113+59532_-113+59535...
ENST00000515059.5:c.-113+59532_-113+59535delinsCGTT ENSP00000426617.1:n.-113+59532_-113+59535...
NM_001203.2:c.-113+59532_-113+59535delinsCGTT NP_001194.1:n.-113+59532_-113+59535delins...
XM_011532201.1:c.-18+59532_-18+59535delinsCGTT XP_011530503.1:n.-18+59532_-18+59535delin...
XM_011532201.2:c.-18+59532_-18+59535delinsCGTT XP_011530503.1:n.-18+59532_-18+59535delin...
XM_017008558.1:c.-113+59532_-113+59535delinsCGTT XP_016864047.1:n.-113+59532_-113+59535del...
XM_017008559.1:c.-113+36382_-113+36385delinsCGTT XP_016864048.1:n.-113+36382_-113+36385del...
NM_001203.3:c.-113+59532_-113+59535delinsCGTT MANE Select NP_001194.1:n.-113+59532_-113+59535delins...