Canonical Allele Identifier: CA1470756680

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911397_78911400delinsTGAG , CM000666.2:g.78911397_78911400delinsTGAG	GRCh38
NC_000004.11:g.79832551_79832554delinsTGAG , CM000666.1:g.79832551_79832554delinsTGAG	GRCh37
NC_000004.10:g.80051575_80051578delinsTGAG	NCBI36
NG_047162.1:g.140020_140023delinsTGAG
NG_053104.1:g.33039_33042delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2850_2853delinsTGAG (BMP2K) MANE Select	ENSP00000424668.2:p.Asn950=
ENST00000335016.9:c.2850_2853delinsTGAG (BMP2K)	ENSP00000334836.5:p.Asn950=
ENST00000342820.10:c.*782+3810_*782+3813delinsCTCA (PAQR3)	ENSP00000344203.6:n.*782+3810_*782+3813delinsCTCA
ENST00000502613.1:c.1927_1930delinsTGAG (BMP2K)
ENST00000511594.5:c.*789_*792delinsCTCA (PAQR3)	ENSP00000425080.1:n.*789_*792delinsCTCA
ENST00000512760.5:c.*792+3810_*792+3813delinsCTCA (PAQR3)	ENSP00000426875.1:n.*792+3810_*792+3813delinsCTCA
ENST00000628286.1:c.*1826_*1829delinsTGAG (BMP2K)	ENSP00000487317.1:n.*1826_*1829delinsTGAG
NM_198892.1:c.2850_2853delinsTGAG (BMP2K)	NP_942595.1:p.Asn950=
XM_005263117.1:c.2739_2742delinsTGAG (BMP2K)	XP_005263174.1:p.Asn913=
XM_011532101.1:c.2610_2613delinsTGAG (BMP2K)	XP_011530403.1:p.Asn870=
XR_938694.1:n.1118-5239_1118-5236delinsCTCA (PAQR3)
XM_017008381.1:c.2610_2613delinsTGAG (BMP2K)	XP_016863870.1:p.Asn870=
XM_017008382.1:c.1962_1965delinsTGAG (BMP2K)	XP_016863871.1:p.Asn654=
XR_938694.3:n.1098-5239_1098-5236delinsCTCA (PAQR3)
NM_198892.2:c.2850_2853delinsTGAG (BMP2K) MANE Select	NP_942595.1:p.Asn950=