Canonical Allele Identifier: CA2671159097

Gene: BMP2K PAQR3

Linked Data

• gnomAD v4: 4-78911323-CCCAAAAGTGTAGATGTATTTGGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911327_78911350del , CM000666.2:g.78911327_78911350del	GRCh38
NC_000004.11:g.79832481_79832504del , CM000666.1:g.79832481_79832504del	GRCh37
NC_000004.10:g.80051505_80051528del	NCBI36
NG_047162.1:g.139950_139973del
NG_053104.1:g.33092_33115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2780_2803del (BMP2K) MANE Select	ENSP00000424668.2:p.Lys927_Ser934del
ENST00000335016.9:c.2780_2803del (BMP2K)	ENSP00000334836.5:p.Lys927_Ser934del
ENST00000342820.10:c.*782+3863_*782+3886del (PAQR3)	ENSP00000344203.6:n.*782+3863_*782+3886del
ENST00000502613.1:c.1857_1880del (BMP2K)
ENST00000511594.5:c.*842_*865del (PAQR3)	ENSP00000425080.1:n.*842_*865del
ENST00000512760.5:c.*792+3863_*792+3886del (PAQR3)	ENSP00000426875.1:n.*792+3863_*792+3886del
ENST00000628286.1:c.*1756_*1779del (BMP2K)	ENSP00000487317.1:n.*1756_*1779del
NM_198892.1:c.2780_2803del (BMP2K)	NP_942595.1:p.Lys927_Ser934del
XM_005263117.1:c.2669_2692del (BMP2K)	XP_005263174.1:p.Lys890_Ser897del
XM_011532101.1:c.2540_2563del (BMP2K)	XP_011530403.1:p.Lys847_Ser854del
XR_938694.1:n.1118-5186_1118-5163del (PAQR3)
XM_017008381.1:c.2540_2563del (BMP2K)	XP_016863870.1:p.Lys847_Ser854del
XM_017008382.1:c.1892_1915del (BMP2K)	XP_016863871.1:p.Lys631_Ser638del
XR_938694.3:n.1098-5186_1098-5163del (PAQR3)
NM_198892.2:c.2780_2803del (BMP2K) MANE Select	NP_942595.1:p.Lys927_Ser934del