Canonical Allele Identifier: CA1470756709

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911461_78911463delinsCAG , CM000666.2:g.78911461_78911463delinsCAG	GRCh38
NC_000004.11:g.79832615_79832617delinsCAG , CM000666.1:g.79832615_79832617delinsCAG	GRCh37
NC_000004.10:g.80051639_80051641delinsCAG	NCBI36
NG_047162.1:g.140084_140086delinsCAG
NG_053104.1:g.32976_32978delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2914_2916delinsCAG (BMP2K) MANE Select	ENSP00000424668.2:p.Gln972=
ENST00000335016.9:c.2914_2916delinsCAG (BMP2K)	ENSP00000334836.5:p.Gln972=
ENST00000342820.10:c.*782+3747_*782+3749delinsCTG (PAQR3)	ENSP00000344203.6:n.*782+3747_*782+3749delinsCTG
ENST00000502613.1:c.1991_1993delinsCAG (BMP2K)
ENST00000511594.5:c.*726_*728delinsCTG (PAQR3)	ENSP00000425080.1:n.*726_*728delinsCTG
ENST00000512760.5:c.*792+3747_*792+3749delinsCTG (PAQR3)	ENSP00000426875.1:n.*792+3747_*792+3749delinsCTG
ENST00000628286.1:c.*1890_*1892delinsCAG (BMP2K)	ENSP00000487317.1:n.*1890_*1892delinsCAG
NM_198892.1:c.2914_2916delinsCAG (BMP2K)	NP_942595.1:p.Gln972=
XM_005263117.1:c.2803_2805delinsCAG (BMP2K)	XP_005263174.1:p.Gln935=
XM_011532101.1:c.2674_2676delinsCAG (BMP2K)	XP_011530403.1:p.Gln892=
XR_938694.1:n.1118-5302_1118-5300delinsCTG (PAQR3)
XM_017008381.1:c.2674_2676delinsCAG (BMP2K)	XP_016863870.1:p.Gln892=
XM_017008382.1:c.2026_2028delinsCAG (BMP2K)	XP_016863871.1:p.Gln676=
XR_938694.3:n.1098-5302_1098-5300delinsCTG (PAQR3)
NM_198892.2:c.2914_2916delinsCAG (BMP2K) MANE Select	NP_942595.1:p.Gln972=