Canonical Allele Identifier: CA553080791

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs1560560627
• gnomAD v2: 4-79832551-TGAG-T
• gnomAD v4: 4-78911397-TGAG-T
• MyVariant Identifiers: chr4:g.79832552_79832554del (hg19) ; chr4:g.78911398_78911400del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911400_78911402del , CM000666.2:g.78911400_78911402del	GRCh38
NC_000004.11:g.79832554_79832556del , CM000666.1:g.79832554_79832556del	GRCh37
NC_000004.10:g.80051578_80051580del	NCBI36
NG_047162.1:g.140023_140025del
NG_053104.1:g.33039_33041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2853_2855del (BMP2K) MANE Select	ENSP00000424668.2:p.Glu951del
ENST00000335016.9:c.2853_2855del (BMP2K)	ENSP00000334836.5:p.Glu951del
ENST00000342820.10:c.*782+3810_*782+3812del (PAQR3)	ENSP00000344203.6:n.*782+3810_*782+3812del
ENST00000502613.1:c.1930_1932del (BMP2K)
ENST00000511594.5:c.*789_*791del (PAQR3)	ENSP00000425080.1:n.*789_*791del
ENST00000512760.5:c.*792+3810_*792+3812del (PAQR3)	ENSP00000426875.1:n.*792+3810_*792+3812del
ENST00000628286.1:c.*1829_*1831del (BMP2K)	ENSP00000487317.1:n.*1829_*1831del
NM_198892.1:c.2853_2855del (BMP2K)	NP_942595.1:p.Glu951del
XM_005263117.1:c.2742_2744del (BMP2K)	XP_005263174.1:p.Glu914del
XM_011532101.1:c.2613_2615del (BMP2K)	XP_011530403.1:p.Glu871del
XR_938694.1:n.1118-5239_1118-5237del (PAQR3)
XM_017008381.1:c.2613_2615del (BMP2K)	XP_016863870.1:p.Glu871del
XM_017008382.1:c.1965_1967del (BMP2K)	XP_016863871.1:p.Glu655del
XR_938694.3:n.1098-5239_1098-5237del (PAQR3)
NM_198892.2:c.2853_2855del (BMP2K) MANE Select	NP_942595.1:p.Glu951del