Canonical Allele Identifier: CA2671159099

Gene: BMP2K PAQR3

Linked Data

• gnomAD v4: 4-78911380-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911380_78911381insTT , CM000666.2:g.78911380_78911381insTT	GRCh38
NC_000004.11:g.79832534_79832535insTT , CM000666.1:g.79832534_79832535insTT	GRCh37
NC_000004.10:g.80051558_80051559insTT	NCBI36
NG_047162.1:g.140003_140004insTT
NG_053104.1:g.33058_33059insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2833_2834insTT (BMP2K) MANE Select	ENSP00000424668.2:p.Ser945IlefsTer19
ENST00000335016.9:c.2833_2834insTT (BMP2K)	ENSP00000334836.5:p.Ser945IlefsTer19
ENST00000342820.10:c.*782+3829_*782+3830insAA (PAQR3)	ENSP00000344203.6:n.*782+3829_*782+3830insAA
ENST00000502613.1:c.1910_1911insTT (BMP2K)
ENST00000511594.5:c.*808_*809insAA (PAQR3)	ENSP00000425080.1:n.*808_*809insAA
ENST00000512760.5:c.*792+3829_*792+3830insAA (PAQR3)	ENSP00000426875.1:n.*792+3829_*792+3830insAA
ENST00000628286.1:c.*1809_*1810insTT (BMP2K)	ENSP00000487317.1:n.*1809_*1810insTT
NM_198892.1:c.2833_2834insTT (BMP2K)	NP_942595.1:p.Ser945IlefsTer19
XM_005263117.1:c.2722_2723insTT (BMP2K)	XP_005263174.1:p.Ser908IlefsTer19
XM_011532101.1:c.2593_2594insTT (BMP2K)	XP_011530403.1:p.Ser865IlefsTer19
XR_938694.1:n.1118-5220_1118-5219insAA (PAQR3)
XM_017008381.1:c.2593_2594insTT (BMP2K)	XP_016863870.1:p.Ser865IlefsTer19
XM_017008382.1:c.1945_1946insTT (BMP2K)	XP_016863871.1:p.Ser649IlefsTer19
XR_938694.3:n.1098-5220_1098-5219insAA (PAQR3)
NM_198892.2:c.2833_2834insTT (BMP2K) MANE Select	NP_942595.1:p.Ser945IlefsTer19