Canonical Allele Identifier: CA1064494500

Gene: BMP2K PAQR3

Linked Data

• gnomAD v3: 4-78911360-AGCCC-A
• gnomAD v4: 4-78911360-AGCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911361_78911364del , CM000666.2:g.78911361_78911364del	GRCh38
NC_000004.11:g.79832515_79832518del , CM000666.1:g.79832515_79832518del	GRCh37
NC_000004.10:g.80051539_80051542del	NCBI36
NG_047162.1:g.139984_139987del
NG_053104.1:g.33075_33078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2814_2817del (BMP2K) MANE Select	ENSP00000424668.2:p.Gln938HisfsTer24
ENST00000335016.9:c.2814_2817del (BMP2K)	ENSP00000334836.5:p.Gln938HisfsTer24
ENST00000342820.10:c.*782+3846_*782+3849del (PAQR3)	ENSP00000344203.6:n.*782+3846_*782+3849del
ENST00000502613.1:c.1891_1894del (BMP2K)
ENST00000511594.5:c.*825_*828del (PAQR3)	ENSP00000425080.1:n.*825_*828del
ENST00000512760.5:c.*792+3846_*792+3849del (PAQR3)	ENSP00000426875.1:n.*792+3846_*792+3849del
ENST00000628286.1:c.*1790_*1793del (BMP2K)	ENSP00000487317.1:n.*1790_*1793del
NM_198892.1:c.2814_2817del (BMP2K)	NP_942595.1:p.Gln938HisfsTer24
XM_005263117.1:c.2703_2706del (BMP2K)	XP_005263174.1:p.Gln901HisfsTer24
XM_011532101.1:c.2574_2577del (BMP2K)	XP_011530403.1:p.Gln858HisfsTer24
XR_938694.1:n.1118-5203_1118-5200del (PAQR3)
XM_017008381.1:c.2574_2577del (BMP2K)	XP_016863870.1:p.Gln858HisfsTer24
XM_017008382.1:c.1926_1929del (BMP2K)	XP_016863871.1:p.Gln642HisfsTer24
XR_938694.3:n.1098-5203_1098-5200del (PAQR3)
NM_198892.2:c.2814_2817del (BMP2K) MANE Select	NP_942595.1:p.Gln938HisfsTer24