Canonical Allele Identifier: CA1470756675

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911382_78911383delinsTA , CM000666.2:g.78911382_78911383delinsTA	GRCh38
NC_000004.11:g.79832536_79832537delinsTA , CM000666.1:g.79832536_79832537delinsTA	GRCh37
NC_000004.10:g.80051560_80051561delinsTA	NCBI36
NG_047162.1:g.140005_140006delinsTA
NG_053104.1:g.33056_33057delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2835_2836delinsTA (BMP2K) MANE Select	ENSP00000424668.2:p.Ser945=
ENST00000335016.9:c.2835_2836delinsTA (BMP2K)	ENSP00000334836.5:p.Ser945=
ENST00000342820.10:c.*782+3827_*782+3828delinsTA (PAQR3)	ENSP00000344203.6:n.*782+3827_*782+3828delinsTA
ENST00000502613.1:c.1912_1913delinsTA (BMP2K)
ENST00000511594.5:c.*806_*807delinsTA (PAQR3)	ENSP00000425080.1:n.*806_*807delinsTA
ENST00000512760.5:c.*792+3827_*792+3828delinsTA (PAQR3)	ENSP00000426875.1:n.*792+3827_*792+3828delinsTA
ENST00000628286.1:c.*1811_*1812delinsTA (BMP2K)	ENSP00000487317.1:n.*1811_*1812delinsTA
NM_198892.1:c.2835_2836delinsTA (BMP2K)	NP_942595.1:p.Ser945=
XM_005263117.1:c.2724_2725delinsTA (BMP2K)	XP_005263174.1:p.Ser908=
XM_011532101.1:c.2595_2596delinsTA (BMP2K)	XP_011530403.1:p.Ser865=
XR_938694.1:n.1118-5222_1118-5221delinsTA (PAQR3)
XM_017008381.1:c.2595_2596delinsTA (BMP2K)	XP_016863870.1:p.Ser865=
XM_017008382.1:c.1947_1948delinsTA (BMP2K)	XP_016863871.1:p.Ser649=
XR_938694.3:n.1098-5222_1098-5221delinsTA (PAQR3)
NM_198892.2:c.2835_2836delinsTA (BMP2K) MANE Select	NP_942595.1:p.Ser945=