Canonical Allele Identifier: CA2980722

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs761885552
• ExAC: 4:79832973 TCCGTGCTGATCACAA / T
• gnomAD v2: 4-79832973-TCCGTGCTGATCACAA-T
• gnomAD v3: 4-78911819-TCCGTGCTGATCACAA-T
• gnomAD v4: 4-78911819-TCCGTGCTGATCACAA-T
• MyVariant Identifiers: chr4:g.79832974_79832988del (hg19) ; chr4:g.78911820_78911834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911820_78911834del , CM000666.2:g.78911820_78911834del	GRCh38
NC_000004.11:g.79832974_79832988del , CM000666.1:g.79832974_79832988del	GRCh37
NC_000004.10:g.80051998_80052012del	NCBI36
NG_047162.1:g.140443_140457del
NG_053104.1:g.32605_32619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3273_3287del (BMP2K) MANE Select	ENSP00000424668.2:p.Arg1092_Asn1096del
ENST00000335016.9:c.3273_3287del (BMP2K)	ENSP00000334836.5:p.Arg1092_Asn1096del
ENST00000342820.10:c.*782+3376_*782+3390del (PAQR3)	ENSP00000344203.6:n.*782+3376_*782+3390del
ENST00000502613.1:c.2350_2364del (BMP2K)
ENST00000511594.5:c.*355_*369del (PAQR3)	ENSP00000425080.1:n.*355_*369del
ENST00000512760.5:c.*792+3376_*792+3390del (PAQR3)	ENSP00000426875.1:n.*792+3376_*792+3390del
ENST00000628286.1:c.*2249_*2263del (BMP2K)	ENSP00000487317.1:n.*2249_*2263del
NM_198892.1:c.3273_3287del (BMP2K)	NP_942595.1:p.Arg1092_Asn1096del
XM_005263117.1:c.3162_3176del (BMP2K)	XP_005263174.1:p.Arg1055_Asn1059del
XM_011532101.1:c.3033_3047del (BMP2K)	XP_011530403.1:p.Arg1012_Asn1016del
XR_938694.1:n.1118-5673_1118-5659del (PAQR3)
XM_017008381.1:c.3033_3047del (BMP2K)	XP_016863870.1:p.Arg1012_Asn1016del
XM_017008382.1:c.2385_2399del (BMP2K)	XP_016863871.1:p.Arg796_Asn800del
XR_938694.3:n.1098-5673_1098-5659del (PAQR3)
NM_198892.2:c.3273_3287del (BMP2K) MANE Select	NP_942595.1:p.Arg1092_Asn1096del