Canonical Allele Identifier: CA2671159112

Gene: BMP2K PAQR3

Linked Data

• gnomAD v4: 4-78911685-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911686del , CM000666.2:g.78911686del	GRCh38
NC_000004.11:g.79832840del , CM000666.1:g.79832840del	GRCh37
NC_000004.10:g.80051864del	NCBI36
NG_047162.1:g.140309del
NG_053104.1:g.32753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3139del (BMP2K) MANE Select	ENSP00000424668.2:p.Val1047LeufsTer3
ENST00000335016.9:c.3139del (BMP2K)	ENSP00000334836.5:p.Val1047LeufsTer3
ENST00000342820.10:c.*782+3524del (PAQR3)	ENSP00000344203.6:n.*782+3524del
ENST00000502613.1:c.2216del (BMP2K)
ENST00000511594.5:c.*503del (PAQR3)	ENSP00000425080.1:n.*503del
ENST00000512760.5:c.*792+3524del (PAQR3)	ENSP00000426875.1:n.*792+3524del
ENST00000628286.1:c.*2115del (BMP2K)	ENSP00000487317.1:n.*2115del
NM_198892.1:c.3139del (BMP2K)	NP_942595.1:p.Val1047LeufsTer3
XM_005263117.1:c.3028del (BMP2K)	XP_005263174.1:p.Val1010LeufsTer3
XM_011532101.1:c.2899del (BMP2K)	XP_011530403.1:p.Val967LeufsTer3
XR_938694.1:n.1118-5525del (PAQR3)
XM_017008381.1:c.2899del (BMP2K)	XP_016863870.1:p.Val967LeufsTer3
XM_017008382.1:c.2251del (BMP2K)	XP_016863871.1:p.Val751LeufsTer3
XR_938694.3:n.1098-5525del (PAQR3)
NM_198892.2:c.3139del (BMP2K) MANE Select	NP_942595.1:p.Val1047LeufsTer3