Canonical Allele Identifier: CA2762314944

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911709_78911710del , CM000666.2:g.78911709_78911710del	GRCh38
NC_000004.11:g.79832863_79832864del , CM000666.1:g.79832863_79832864del	GRCh37
NC_000004.10:g.80051887_80051888del	NCBI36
NG_047162.1:g.140332_140333del
NG_053104.1:g.32730_32731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3162_3163del (BMP2K) MANE Select	ENSP00000424668.2:p.Asp1054GlufsTer8
ENST00000335016.9:c.3162_3163del (BMP2K)	ENSP00000334836.5:p.Asp1054GlufsTer8
ENST00000342820.10:c.*782+3501_*782+3502del (PAQR3)	ENSP00000344203.6:n.*782+3501_*782+3502del
ENST00000502613.1:c.2239_2240del (BMP2K)
ENST00000511594.5:c.*480_*481del (PAQR3)	ENSP00000425080.1:n.*480_*481del
ENST00000512760.5:c.*792+3501_*792+3502del (PAQR3)	ENSP00000426875.1:n.*792+3501_*792+3502del
ENST00000628286.1:c.*2138_*2139del (BMP2K)	ENSP00000487317.1:n.*2138_*2139del
NM_198892.1:c.3162_3163del (BMP2K)	NP_942595.1:p.Asp1054GlufsTer8
XM_005263117.1:c.3051_3052del (BMP2K)	XP_005263174.1:p.Asp1017GlufsTer8
XM_011532101.1:c.2922_2923del (BMP2K)	XP_011530403.1:p.Asp974GlufsTer8
XR_938694.1:n.1118-5548_1118-5547del (PAQR3)
XM_017008381.1:c.2922_2923del (BMP2K)	XP_016863870.1:p.Asp974GlufsTer8
XM_017008382.1:c.2274_2275del (BMP2K)	XP_016863871.1:p.Asp758GlufsTer8
XR_938694.3:n.1098-5548_1098-5547del (PAQR3)
NM_198892.2:c.3162_3163del (BMP2K) MANE Select	NP_942595.1:p.Asp1054GlufsTer8