Canonical Allele Identifier: CA1064494469

Gene: BMP2K PAQR3

Linked Data

• gnomAD v3: 4-78911337-T-TCTCG
• gnomAD v4: 4-78911337-T-TCTCG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911337_78911338insCTCG , CM000666.2:g.78911337_78911338insCTCG	GRCh38
NC_000004.11:g.79832491_79832492insCTCG , CM000666.1:g.79832491_79832492insCTCG	GRCh37
NC_000004.10:g.80051515_80051516insCTCG	NCBI36
NG_047162.1:g.139960_139961insCTCG
NG_053104.1:g.33101_33102insCGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2790_2791insCTCG (BMP2K) MANE Select	ENSP00000424668.2:p.Val931LeufsTer17
ENST00000335016.9:c.2790_2791insCTCG (BMP2K)	ENSP00000334836.5:p.Val931LeufsTer17
ENST00000342820.10:c.*782+3872_*782+3873insCGAG (PAQR3)	ENSP00000344203.6:n.*782+3872_*782+3873insCGAG
ENST00000502613.1:c.1867_1868insCTCG (BMP2K)
ENST00000511594.5:c.*851_*852insCGAG (PAQR3)	ENSP00000425080.1:n.*851_*852insCGAG
ENST00000512760.5:c.*792+3872_*792+3873insCGAG (PAQR3)	ENSP00000426875.1:n.*792+3872_*792+3873insCGAG
ENST00000628286.1:c.*1766_*1767insCTCG (BMP2K)	ENSP00000487317.1:n.*1766_*1767insCTCG
NM_198892.1:c.2790_2791insCTCG (BMP2K)	NP_942595.1:p.Val931LeufsTer17
XM_005263117.1:c.2679_2680insCTCG (BMP2K)	XP_005263174.1:p.Val894LeufsTer17
XM_011532101.1:c.2550_2551insCTCG (BMP2K)	XP_011530403.1:p.Val851LeufsTer17
XR_938694.1:n.1118-5177_1118-5176insCGAG (PAQR3)
XM_017008381.1:c.2550_2551insCTCG (BMP2K)	XP_016863870.1:p.Val851LeufsTer17
XM_017008382.1:c.1902_1903insCTCG (BMP2K)	XP_016863871.1:p.Val635LeufsTer17
XR_938694.3:n.1098-5177_1098-5176insCGAG (PAQR3)
NM_198892.2:c.2790_2791insCTCG (BMP2K) MANE Select	NP_942595.1:p.Val931LeufsTer17