Canonical Allele Identifier: CA2671159103

Gene: BMP2K PAQR3

Linked Data

• gnomAD v4: 4-78911511-TATGTCCAAAAGTAATGGGAAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911512_78911533del , CM000666.2:g.78911512_78911533del	GRCh38
NC_000004.11:g.79832666_79832687del , CM000666.1:g.79832666_79832687del	GRCh37
NC_000004.10:g.80051690_80051711del	NCBI36
NG_047162.1:g.140135_140156del
NG_053104.1:g.32906_32927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2965_2986del (BMP2K) MANE Select	ENSP00000424668.2:p.Met989GlyfsTer13
ENST00000335016.9:c.2965_2986del (BMP2K)	ENSP00000334836.5:p.Met989GlyfsTer13
ENST00000342820.10:c.*782+3677_*782+3698del (PAQR3)	ENSP00000344203.6:n.*782+3677_*782+3698del
ENST00000502613.1:c.2042_2063del (BMP2K)
ENST00000511594.5:c.*656_*677del (PAQR3)	ENSP00000425080.1:n.*656_*677del
ENST00000512760.5:c.*792+3677_*792+3698del (PAQR3)	ENSP00000426875.1:n.*792+3677_*792+3698del
ENST00000628286.1:c.*1941_*1962del (BMP2K)	ENSP00000487317.1:n.*1941_*1962del
NM_198892.1:c.2965_2986del (BMP2K)	NP_942595.1:p.Met989GlyfsTer13
XM_005263117.1:c.2854_2875del (BMP2K)	XP_005263174.1:p.Met952GlyfsTer13
XM_011532101.1:c.2725_2746del (BMP2K)	XP_011530403.1:p.Met909GlyfsTer13
XR_938694.1:n.1118-5372_1118-5351del (PAQR3)
XM_017008381.1:c.2725_2746del (BMP2K)	XP_016863870.1:p.Met909GlyfsTer13
XM_017008382.1:c.2077_2098del (BMP2K)	XP_016863871.1:p.Met693GlyfsTer13
XR_938694.3:n.1098-5372_1098-5351del (PAQR3)
NM_198892.2:c.2965_2986del (BMP2K) MANE Select	NP_942595.1:p.Met989GlyfsTer13