Canonical Allele Identifier: CA1470756638

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911303_78911307delinsCACAT , CM000666.2:g.78911303_78911307delinsCACAT	GRCh38
NC_000004.11:g.79832457_79832461delinsCACAT , CM000666.1:g.79832457_79832461delinsCACAT	GRCh37
NC_000004.10:g.80051481_80051485delinsCACAT	NCBI36
NG_047162.1:g.139926_139930delinsCACAT
NG_053104.1:g.33132_33136delinsATGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2756_2760delinsCACAT (BMP2K) MANE Select	ENSP00000424668.2:p.Ala919=
ENST00000335016.9:c.2756_2760delinsCACAT (BMP2K)	ENSP00000334836.5:p.Ala919=
ENST00000342820.10:c.*782+3903_*782+3907delinsATGTG (PAQR3)	ENSP00000344203.6:n.*782+3903_*782+3907delinsATGTG
ENST00000502613.1:c.1833_1837delinsCACAT (BMP2K)
ENST00000511594.5:c.*882_*886delinsATGTG (PAQR3)	ENSP00000425080.1:n.*882_*886delinsATGTG
ENST00000512760.5:c.*792+3903_*792+3907delinsATGTG (PAQR3)	ENSP00000426875.1:n.*792+3903_*792+3907delinsATGTG
ENST00000628286.1:c.*1732_*1736delinsCACAT (BMP2K)	ENSP00000487317.1:n.*1732_*1736delinsCACAT
NM_198892.1:c.2756_2760delinsCACAT (BMP2K)	NP_942595.1:p.Ala919=
XM_005263117.1:c.2645_2649delinsCACAT (BMP2K)	XP_005263174.1:p.Ala882=
XM_011532101.1:c.2516_2520delinsCACAT (BMP2K)	XP_011530403.1:p.Ala839=
XR_938694.1:n.1118-5146_1118-5142delinsATGTG (PAQR3)
XM_017008381.1:c.2516_2520delinsCACAT (BMP2K)	XP_016863870.1:p.Ala839=
XM_017008382.1:c.1868_1872delinsCACAT (BMP2K)	XP_016863871.1:p.Ala623=
XR_938694.3:n.1098-5146_1098-5142delinsATGTG (PAQR3)
NM_198892.2:c.2756_2760delinsCACAT (BMP2K) MANE Select	NP_942595.1:p.Ala919=