Canonical Allele Identifier: CA1470756777

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911610_78911611delinsCA , CM000666.2:g.78911610_78911611delinsCA	GRCh38
NC_000004.11:g.79832764_79832765delinsCA , CM000666.1:g.79832764_79832765delinsCA	GRCh37
NC_000004.10:g.80051788_80051789delinsCA	NCBI36
NG_047162.1:g.140233_140234delinsCA
NG_053104.1:g.32828_32829delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3063_3064delinsCA (BMP2K) MANE Select	ENSP00000424668.2:p.His1021=
ENST00000335016.9:c.3063_3064delinsCA (BMP2K)	ENSP00000334836.5:p.His1021=
ENST00000342820.10:c.*782+3599_*782+3600delinsTG (PAQR3)	ENSP00000344203.6:n.*782+3599_*782+3600delinsTG
ENST00000502613.1:c.2140_2141delinsCA (BMP2K)
ENST00000511594.5:c.*578_*579delinsTG (PAQR3)	ENSP00000425080.1:n.*578_*579delinsTG
ENST00000512760.5:c.*792+3599_*792+3600delinsTG (PAQR3)	ENSP00000426875.1:n.*792+3599_*792+3600delinsTG
ENST00000628286.1:c.*2039_*2040delinsCA (BMP2K)	ENSP00000487317.1:n.*2039_*2040delinsCA
NM_198892.1:c.3063_3064delinsCA (BMP2K)	NP_942595.1:p.His1021=
XM_005263117.1:c.2952_2953delinsCA (BMP2K)	XP_005263174.1:p.His984=
XM_011532101.1:c.2823_2824delinsCA (BMP2K)	XP_011530403.1:p.His941=
XR_938694.1:n.1118-5450_1118-5449delinsTG (PAQR3)
XM_017008381.1:c.2823_2824delinsCA (BMP2K)	XP_016863870.1:p.His941=
XM_017008382.1:c.2175_2176delinsCA (BMP2K)	XP_016863871.1:p.His725=
XR_938694.3:n.1098-5450_1098-5449delinsTG (PAQR3)
NM_198892.2:c.3063_3064delinsCA (BMP2K) MANE Select	NP_942595.1:p.His1021=