Canonical Allele Identifier: CA1064494483

Gene: BMP2K PAQR3

Linked Data

• gnomAD v3: 4-78911345-GC-G
• gnomAD v4: 4-78911345-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911346del , CM000666.2:g.78911346del	GRCh38
NC_000004.11:g.79832500del , CM000666.1:g.79832500del	GRCh37
NC_000004.10:g.80051524del	NCBI36
NG_047162.1:g.139969del
NG_053104.1:g.33093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2799del (BMP2K) MANE Select	ENSP00000424668.2:p.Ser934ProfsTer29
ENST00000335016.9:c.2799del (BMP2K)	ENSP00000334836.5:p.Ser934ProfsTer29
ENST00000342820.10:c.*782+3864del (PAQR3)	ENSP00000344203.6:n.*782+3864del
ENST00000502613.1:c.1876del (BMP2K)
ENST00000511594.5:c.*843del (PAQR3)	ENSP00000425080.1:n.*843del
ENST00000512760.5:c.*792+3864del (PAQR3)	ENSP00000426875.1:n.*792+3864del
ENST00000628286.1:c.*1775del (BMP2K)	ENSP00000487317.1:n.*1775del
NM_198892.1:c.2799del (BMP2K)	NP_942595.1:p.Ser934ProfsTer29
XM_005263117.1:c.2688del (BMP2K)	XP_005263174.1:p.Ser897ProfsTer29
XM_011532101.1:c.2559del (BMP2K)	XP_011530403.1:p.Ser854ProfsTer29
XR_938694.1:n.1118-5185del (PAQR3)
XM_017008381.1:c.2559del (BMP2K)	XP_016863870.1:p.Ser854ProfsTer29
XM_017008382.1:c.1911del (BMP2K)	XP_016863871.1:p.Ser638ProfsTer29
XR_938694.3:n.1098-5185del (PAQR3)
NM_198892.2:c.2799del (BMP2K) MANE Select	NP_942595.1:p.Ser934ProfsTer29