Canonical Allele Identifier: CA1064494488

Gene: BMP2K PAQR3

Linked Data

• gnomAD v3: 4-78911347-TCCA-T
• gnomAD v4: 4-78911347-TCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911349_78911351del , CM000666.2:g.78911349_78911351del	GRCh38
NC_000004.11:g.79832503_79832505del , CM000666.1:g.79832503_79832505del	GRCh37
NC_000004.10:g.80051527_80051529del	NCBI36
NG_047162.1:g.139972_139974del
NG_053104.1:g.33089_33091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2802_2804del (BMP2K) MANE Select	ENSP00000424668.2:p.Thr935del
ENST00000335016.9:c.2802_2804del (BMP2K)	ENSP00000334836.5:p.Thr935del
ENST00000342820.10:c.*782+3860_*782+3862del (PAQR3)	ENSP00000344203.6:n.*782+3860_*782+3862del
ENST00000502613.1:c.1879_1881del (BMP2K)
ENST00000511594.5:c.*839_*841del (PAQR3)	ENSP00000425080.1:n.*839_*841del
ENST00000512760.5:c.*792+3860_*792+3862del (PAQR3)	ENSP00000426875.1:n.*792+3860_*792+3862del
ENST00000628286.1:c.*1778_*1780del (BMP2K)	ENSP00000487317.1:n.*1778_*1780del
NM_198892.1:c.2802_2804del (BMP2K)	NP_942595.1:p.Thr935del
XM_005263117.1:c.2691_2693del (BMP2K)	XP_005263174.1:p.Thr898del
XM_011532101.1:c.2562_2564del (BMP2K)	XP_011530403.1:p.Thr855del
XR_938694.1:n.1118-5189_1118-5187del (PAQR3)
XM_017008381.1:c.2562_2564del (BMP2K)	XP_016863870.1:p.Thr855del
XM_017008382.1:c.1914_1916del (BMP2K)	XP_016863871.1:p.Thr639del
XR_938694.3:n.1098-5189_1098-5187del (PAQR3)
NM_198892.2:c.2802_2804del (BMP2K) MANE Select	NP_942595.1:p.Thr935del