Canonical Allele Identifier: CA1064494472

Gene: BMP2K PAQR3

Linked Data

• gnomAD v3: 4-78911338-GTATT-G
• gnomAD v4: 4-78911338-GTATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911340_78911343del , CM000666.2:g.78911340_78911343del	GRCh38
NC_000004.11:g.79832494_79832497del , CM000666.1:g.79832494_79832497del	GRCh37
NC_000004.10:g.80051518_80051521del	NCBI36
NG_047162.1:g.139963_139966del
NG_053104.1:g.33097_33100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2793_2796del (BMP2K) MANE Select	ENSP00000424668.2:p.Phe932AlafsTer?
ENST00000335016.9:c.2793_2796del (BMP2K)	ENSP00000334836.5:p.Phe932AlafsTer?
ENST00000342820.10:c.*782+3868_*782+3871del (PAQR3)	ENSP00000344203.6:n.*782+3868_*782+3871del
ENST00000502613.1:c.1870_1873del (BMP2K)
ENST00000511594.5:c.*847_*850del (PAQR3)	ENSP00000425080.1:n.*847_*850del
ENST00000512760.5:c.*792+3868_*792+3871del (PAQR3)	ENSP00000426875.1:n.*792+3868_*792+3871del
ENST00000628286.1:c.*1769_*1772del (BMP2K)	ENSP00000487317.1:n.*1769_*1772del
NM_198892.1:c.2793_2796del (BMP2K)	NP_942595.1:p.Phe932AlafsTer?
XM_005263117.1:c.2682_2685del (BMP2K)	XP_005263174.1:p.Phe895AlafsTer?
XM_011532101.1:c.2553_2556del (BMP2K)	XP_011530403.1:p.Phe852AlafsTer?
XR_938694.1:n.1118-5181_1118-5178del (PAQR3)
XM_017008381.1:c.2553_2556del (BMP2K)	XP_016863870.1:p.Phe852AlafsTer?
XM_017008382.1:c.1905_1908del (BMP2K)	XP_016863871.1:p.Phe636AlafsTer?
XR_938694.3:n.1098-5181_1098-5178del (PAQR3)
NM_198892.2:c.2793_2796del (BMP2K) MANE Select	NP_942595.1:p.Phe932AlafsTer?