Canonical Allele Identifier: CA1470756703

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911449_78911450delinsCA , CM000666.2:g.78911449_78911450delinsCA	GRCh38
NC_000004.11:g.79832603_79832604delinsCA , CM000666.1:g.79832603_79832604delinsCA	GRCh37
NC_000004.10:g.80051627_80051628delinsCA	NCBI36
NG_047162.1:g.140072_140073delinsCA
NG_053104.1:g.32989_32990delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2902_2903delinsCA (BMP2K) MANE Select	ENSP00000424668.2:p.Gln968=
ENST00000335016.9:c.2902_2903delinsCA (BMP2K)	ENSP00000334836.5:p.Gln968=
ENST00000342820.10:c.*782+3760_*782+3761delinsTG (PAQR3)	ENSP00000344203.6:n.*782+3760_*782+3761delinsTG
ENST00000502613.1:c.1979_1980delinsCA (BMP2K)
ENST00000511594.5:c.*739_*740delinsTG (PAQR3)	ENSP00000425080.1:n.*739_*740delinsTG
ENST00000512760.5:c.*792+3760_*792+3761delinsTG (PAQR3)	ENSP00000426875.1:n.*792+3760_*792+3761delinsTG
ENST00000628286.1:c.*1878_*1879delinsCA (BMP2K)	ENSP00000487317.1:n.*1878_*1879delinsCA
NM_198892.1:c.2902_2903delinsCA (BMP2K)	NP_942595.1:p.Gln968=
XM_005263117.1:c.2791_2792delinsCA (BMP2K)	XP_005263174.1:p.Gln931=
XM_011532101.1:c.2662_2663delinsCA (BMP2K)	XP_011530403.1:p.Gln888=
XR_938694.1:n.1118-5289_1118-5288delinsTG (PAQR3)
XM_017008381.1:c.2662_2663delinsCA (BMP2K)	XP_016863870.1:p.Gln888=
XM_017008382.1:c.2014_2015delinsCA (BMP2K)	XP_016863871.1:p.Gln672=
XR_938694.3:n.1098-5289_1098-5288delinsTG (PAQR3)
NM_198892.2:c.2902_2903delinsCA (BMP2K) MANE Select	NP_942595.1:p.Gln968=