Canonical Allele Identifier: CA1470756859

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911803_78911805delinsCAG , CM000666.2:g.78911803_78911805delinsCAG	GRCh38
NC_000004.11:g.79832957_79832959delinsCAG , CM000666.1:g.79832957_79832959delinsCAG	GRCh37
NC_000004.10:g.80051981_80051983delinsCAG	NCBI36
NG_047162.1:g.140426_140428delinsCAG
NG_053104.1:g.32634_32636delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3256_3258delinsCAG (BMP2K) MANE Select	ENSP00000424668.2:p.Gln1086=
ENST00000335016.9:c.3256_3258delinsCAG (BMP2K)	ENSP00000334836.5:p.Gln1086=
ENST00000342820.10:c.*782+3405_*782+3407delinsCTG (PAQR3)	ENSP00000344203.6:n.*782+3405_*782+3407delinsCTG
ENST00000502613.1:c.2333_2335delinsCAG (BMP2K)
ENST00000511594.5:c.*384_*386delinsCTG (PAQR3)	ENSP00000425080.1:n.*384_*386delinsCTG
ENST00000512760.5:c.*792+3405_*792+3407delinsCTG (PAQR3)	ENSP00000426875.1:n.*792+3405_*792+3407delinsCTG
ENST00000628286.1:c.*2232_*2234delinsCAG (BMP2K)	ENSP00000487317.1:n.*2232_*2234delinsCAG
NM_198892.1:c.3256_3258delinsCAG (BMP2K)	NP_942595.1:p.Gln1086=
XM_005263117.1:c.3145_3147delinsCAG (BMP2K)	XP_005263174.1:p.Gln1049=
XM_011532101.1:c.3016_3018delinsCAG (BMP2K)	XP_011530403.1:p.Gln1006=
XR_938694.1:n.1118-5644_1118-5642delinsCTG (PAQR3)
XM_017008381.1:c.3016_3018delinsCAG (BMP2K)	XP_016863870.1:p.Gln1006=
XM_017008382.1:c.2368_2370delinsCAG (BMP2K)	XP_016863871.1:p.Gln790=
XR_938694.3:n.1098-5644_1098-5642delinsCTG (PAQR3)
NM_198892.2:c.3256_3258delinsCAG (BMP2K) MANE Select	NP_942595.1:p.Gln1086=