Canonical Allele Identifier: CA1470756671

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911374_78911377delinsTCAA , CM000666.2:g.78911374_78911377delinsTCAA	GRCh38
NC_000004.11:g.79832528_79832531delinsTCAA , CM000666.1:g.79832528_79832531delinsTCAA	GRCh37
NC_000004.10:g.80051552_80051555delinsTCAA	NCBI36
NG_047162.1:g.139997_140000delinsTCAA
NG_053104.1:g.33062_33065delinsTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2827_2830delinsTCAA (BMP2K) MANE Select	ENSP00000424668.2:p.Ser943=
ENST00000335016.9:c.2827_2830delinsTCAA (BMP2K)	ENSP00000334836.5:p.Ser943=
ENST00000342820.10:c.*782+3833_*782+3836delinsTTGA (PAQR3)	ENSP00000344203.6:n.*782+3833_*782+3836delinsTTGA
ENST00000502613.1:c.1904_1907delinsTCAA (BMP2K)
ENST00000511594.5:c.*812_*815delinsTTGA (PAQR3)	ENSP00000425080.1:n.*812_*815delinsTTGA
ENST00000512760.5:c.*792+3833_*792+3836delinsTTGA (PAQR3)	ENSP00000426875.1:n.*792+3833_*792+3836delinsTTGA
ENST00000628286.1:c.*1803_*1806delinsTCAA (BMP2K)	ENSP00000487317.1:n.*1803_*1806delinsTCAA
NM_198892.1:c.2827_2830delinsTCAA (BMP2K)	NP_942595.1:p.Ser943=
XM_005263117.1:c.2716_2719delinsTCAA (BMP2K)	XP_005263174.1:p.Ser906=
XM_011532101.1:c.2587_2590delinsTCAA (BMP2K)	XP_011530403.1:p.Ser863=
XR_938694.1:n.1118-5216_1118-5213delinsTTGA (PAQR3)
XM_017008381.1:c.2587_2590delinsTCAA (BMP2K)	XP_016863870.1:p.Ser863=
XM_017008382.1:c.1939_1942delinsTCAA (BMP2K)	XP_016863871.1:p.Ser647=
XR_938694.3:n.1098-5216_1098-5213delinsTTGA (PAQR3)
NM_198892.2:c.2827_2830delinsTCAA (BMP2K) MANE Select	NP_942595.1:p.Ser943=