Canonical Allele Identifier: CA102292627

Gene: BMPR1B

Linked Data

• dbSNP Id: rs765504372
• gnomAD v3: 4-94935603-A-ATG
• gnomAD v4: 4-94935603-A-ATG
• MyVariant Identifiers: chr4:g.95856754_95856755insTG (hg19) ; chr4:g.94935603_94935604insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94935610_94935611dup , CM000666.2:g.94935610_94935611dup	GRCh38
NC_000004.11:g.95856761_95856762dup , CM000666.1:g.95856761_95856762dup	GRCh37
NC_000004.10:g.96075784_96075785dup	NCBI36
NG_009245.1:g.182634_182635dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515059.6:c.-113+59710_-113+59711dup MANE Select	ENSP00000426617.1:n.-113+59710_-113+59711dup
ENST00000515059.5:c.-113+59710_-113+59711dup	ENSP00000426617.1:n.-113+59710_-113+59711dup
NM_001203.2:c.-113+59710_-113+59711dup	NP_001194.1:n.-113+59710_-113+59711dup
XM_011532201.1:c.-18+59710_-18+59711dup	XP_011530503.1:n.-18+59710_-18+59711dup
XM_011532201.2:c.-18+59710_-18+59711dup	XP_011530503.1:n.-18+59710_-18+59711dup
XM_017008558.1:c.-113+59710_-113+59711dup	XP_016864047.1:n.-113+59710_-113+59711dup
XM_017008559.1:c.-113+36560_-113+36561dup	XP_016864048.1:n.-113+36560_-113+36561dup
NM_001203.3:c.-113+59710_-113+59711dup MANE Select	NP_001194.1:n.-113+59710_-113+59711dup