Canonical Allele Identifier: CA2600766908

Gene: BMP2K PAQR3

Linked Data

• gnomAD v3: 4-78911869-CTACATGGGT-C
• gnomAD v4: 4-78911869-CTACATGGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911870_78911878del , CM000666.2:g.78911870_78911878del	GRCh38
NC_000004.11:g.79833024_79833032del , CM000666.1:g.79833024_79833032del	GRCh37
NC_000004.10:g.80052048_80052056del	NCBI36
NG_047162.1:g.140493_140501del
NG_053104.1:g.32561_32569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3323_3331del (BMP2K) MANE Select	ENSP00000424668.2:p.Leu1108_Ser1111delinsPro
ENST00000335016.9:c.3323_3331del (BMP2K)	ENSP00000334836.5:p.Leu1108_Ser1111delinsPro
ENST00000342820.10:c.*782+3332_*782+3340del (PAQR3)	ENSP00000344203.6:n.*782+3332_*782+3340del
ENST00000502613.1:c.2400_2408del (BMP2K)
ENST00000511594.5:c.*311_*319del (PAQR3)	ENSP00000425080.1:n.*311_*319del
ENST00000512760.5:c.*792+3332_*792+3340del (PAQR3)	ENSP00000426875.1:n.*792+3332_*792+3340del
ENST00000628286.1:c.*2299_*2307del (BMP2K)	ENSP00000487317.1:n.*2299_*2307del
NM_198892.1:c.3323_3331del (BMP2K)	NP_942595.1:p.Leu1108_Ser1111delinsPro
XM_005263117.1:c.3212_3220del (BMP2K)	XP_005263174.1:p.Leu1071_Ser1074delinsPro
XM_011532101.1:c.3083_3091del (BMP2K)	XP_011530403.1:p.Leu1028_Ser1031delinsPro
XR_938694.1:n.1118-5717_1118-5709del (PAQR3)
XM_017008381.1:c.3083_3091del (BMP2K)	XP_016863870.1:p.Leu1028_Ser1031delinsPro
XM_017008382.1:c.2435_2443del (BMP2K)	XP_016863871.1:p.Leu812_Ser815delinsPro
XR_938694.3:n.1098-5717_1098-5709del (PAQR3)
NM_198892.2:c.3323_3331del (BMP2K) MANE Select	NP_942595.1:p.Leu1108_Ser1111delinsPro