Canonical Allele Identifier: CA1470756867

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911819_78911834delinsTCCGTGCTGATCACAA , CM000666.2:g.78911819_78911834delinsTCCGTGCTGATCACAA	GRCh38
NC_000004.11:g.79832973_79832988delinsTCCGTGCTGATCACAA , CM000666.1:g.79832973_79832988delinsTCCGTGCTGATCACAA	GRCh37
NC_000004.10:g.80051997_80052012delinsTCCGTGCTGATCACAA	NCBI36
NG_047162.1:g.140442_140457delinsTCCGTGCTGATCACAA
NG_053104.1:g.32605_32620delinsTTGTGATCAGCACGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3272_3287delinsTCCGTGCTGATCACAA (BMP2K) MANE Select	ENSP00000424668.2:p.Ile1091=
ENST00000335016.9:c.3272_3287delinsTCCGTGCTGATCACAA (BMP2K)	ENSP00000334836.5:p.Ile1091=
ENST00000342820.10:c.*782+3376_*782+3391delinsTTGTGATCAGCACGGA (PAQR3)	ENSP00000344203.6:n.*782+3376_*782+3391delinsTTGTGATCAGCACGGA...
ENST00000502613.1:c.2349_2364delinsTCCGTGCTGATCACAA (BMP2K)
ENST00000511594.5:c.*355_*370delinsTTGTGATCAGCACGGA (PAQR3)	ENSP00000425080.1:n.*355_*370delinsTTGTGATCAGCACGGA
ENST00000512760.5:c.*792+3376_*792+3391delinsTTGTGATCAGCACGGA (PAQR3)	ENSP00000426875.1:n.*792+3376_*792+3391delinsTTGTGATCAGCACGGA...
ENST00000628286.1:c.*2248_*2263delinsTCCGTGCTGATCACAA (BMP2K)	ENSP00000487317.1:n.*2248_*2263delinsTCCGTGCTGATCACAA
NM_198892.1:c.3272_3287delinsTCCGTGCTGATCACAA (BMP2K)	NP_942595.1:p.Ile1091=
XM_005263117.1:c.3161_3176delinsTCCGTGCTGATCACAA (BMP2K)	XP_005263174.1:p.Ile1054=
XM_011532101.1:c.3032_3047delinsTCCGTGCTGATCACAA (BMP2K)	XP_011530403.1:p.Ile1011=
XR_938694.1:n.1118-5673_1118-5658delinsTTGTGATCAGCACGGA (PAQR3)
XM_017008381.1:c.3032_3047delinsTCCGTGCTGATCACAA (BMP2K)	XP_016863870.1:p.Ile1011=
XM_017008382.1:c.2384_2399delinsTCCGTGCTGATCACAA (BMP2K)	XP_016863871.1:p.Ile795=
XR_938694.3:n.1098-5673_1098-5658delinsTTGTGATCAGCACGGA (PAQR3)
NM_198892.2:c.3272_3287delinsTCCGTGCTGATCACAA (BMP2K) MANE Select	NP_942595.1:p.Ile1091=