Canonical Allele Identifier: CA2671159108

Gene: BMP2K PAQR3

Linked Data

• gnomAD v4: 4-78911589-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911591del , CM000666.2:g.78911591del	GRCh38
NC_000004.11:g.79832745del , CM000666.1:g.79832745del	GRCh37
NC_000004.10:g.80051769del	NCBI36
NG_047162.1:g.140214del
NG_053104.1:g.32849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3044del (BMP2K) MANE Select	ENSP00000424668.2:p.Pro1015GlnfsTer22
ENST00000335016.9:c.3044del (BMP2K)	ENSP00000334836.5:p.Pro1015GlnfsTer22
ENST00000342820.10:c.*782+3620del (PAQR3)	ENSP00000344203.6:n.*782+3620del
ENST00000502613.1:c.2121del (BMP2K)
ENST00000511594.5:c.*599del (PAQR3)	ENSP00000425080.1:n.*599del
ENST00000512760.5:c.*792+3620del (PAQR3)	ENSP00000426875.1:n.*792+3620del
ENST00000628286.1:c.*2020del (BMP2K)	ENSP00000487317.1:n.*2020del
NM_198892.1:c.3044del (BMP2K)	NP_942595.1:p.Pro1015GlnfsTer22
XM_005263117.1:c.2933del (BMP2K)	XP_005263174.1:p.Pro978GlnfsTer22
XM_011532101.1:c.2804del (BMP2K)	XP_011530403.1:p.Pro935GlnfsTer22
XR_938694.1:n.1118-5429del (PAQR3)
XM_017008381.1:c.2804del (BMP2K)	XP_016863870.1:p.Pro935GlnfsTer22
XM_017008382.1:c.2156del (BMP2K)	XP_016863871.1:p.Pro719GlnfsTer22
XR_938694.3:n.1098-5429del (PAQR3)
NM_198892.2:c.3044del (BMP2K) MANE Select	NP_942595.1:p.Pro1015GlnfsTer22