Canonical Allele Identifier: CA1470756706

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911456_78911464delinsTCAAACAGC , CM000666.2:g.78911456_78911464delinsTCAAACAGC	GRCh38
NC_000004.11:g.79832610_79832618delinsTCAAACAGC , CM000666.1:g.79832610_79832618delinsTCAAACAGC	GRCh37
NC_000004.10:g.80051634_80051642delinsTCAAACAGC	NCBI36
NG_047162.1:g.140079_140087delinsTCAAACAGC
NG_053104.1:g.32975_32983delinsGCTGTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2909_2917delinsTCAAACAGC (BMP2K) MANE Select	ENSP00000424668.2:p.Val970=
ENST00000335016.9:c.2909_2917delinsTCAAACAGC (BMP2K)	ENSP00000334836.5:p.Val970=
ENST00000342820.10:c.*782+3746_*782+3754delinsGCTGTTTGA (PAQR3)	ENSP00000344203.6:n.*782+3746_*782+3754delinsGCTGTTTGA
ENST00000502613.1:c.1986_1994delinsTCAAACAGC (BMP2K)
ENST00000511594.5:c.*725_*733delinsGCTGTTTGA (PAQR3)	ENSP00000425080.1:n.*725_*733delinsGCTGTTTGA
ENST00000512760.5:c.*792+3746_*792+3754delinsGCTGTTTGA (PAQR3)	ENSP00000426875.1:n.*792+3746_*792+3754delinsGCTGTTTGA
ENST00000628286.1:c.*1885_*1893delinsTCAAACAGC (BMP2K)	ENSP00000487317.1:n.*1885_*1893delinsTCAAACAGC
NM_198892.1:c.2909_2917delinsTCAAACAGC (BMP2K)	NP_942595.1:p.Val970=
XM_005263117.1:c.2798_2806delinsTCAAACAGC (BMP2K)	XP_005263174.1:p.Val933=
XM_011532101.1:c.2669_2677delinsTCAAACAGC (BMP2K)	XP_011530403.1:p.Val890=
XR_938694.1:n.1118-5303_1118-5295delinsGCTGTTTGA (PAQR3)
XM_017008381.1:c.2669_2677delinsTCAAACAGC (BMP2K)	XP_016863870.1:p.Val890=
XM_017008382.1:c.2021_2029delinsTCAAACAGC (BMP2K)	XP_016863871.1:p.Val674=
XR_938694.3:n.1098-5303_1098-5295delinsGCTGTTTGA (PAQR3)
NM_198892.2:c.2909_2917delinsTCAAACAGC (BMP2K) MANE Select	NP_942595.1:p.Val970=