Canonical Allele Identifier: CA645527201

Gene: BMP2K PAQR3

Linked Data

• COSMIC: COSM5072792

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911838_78911886delinsATACTATCCCTGGTTATCCCAAA , CM000666.2:g.78911838_78911886delinsATACTATCCCTGGTTATCCCAAA	GRCh38
NC_000004.11:g.79832992_79833040delinsATACTATCCCTGGTTATCCCAAA , CM000666.1:g.79832992_79833040delinsATACTATCCCTGGTTATCCCAAA	GRCh37
NC_000004.10:g.80052016_80052064delinsATACTATCCCTGGTTATCCCAAA	NCBI36
NG_047162.1:g.140461_140509delinsATACTATCCCTGGTTATCCCAAA
NG_053104.1:g.32553_32601delinsTTTGGGATAACCAGGGATAGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3291_3339delinsATACTATCCCTGGTTATCCCAAA (BMP2K) MANE Select	ENSP00000424668.2:p.Val1098TyrfsTer16
ENST00000335016.9:c.3291_3339delinsATACTATCCCTGGTTATCCCAAA (BMP2K)	ENSP00000334836.5:p.Val1098TyrfsTer16
ENST00000342820.10:c.*782+3324_*782+3372delinsTTTGGGATAACCAGGGATAGTAT (PAQR3)	ENSP00000344203.6:n.*782+3324_*782+3372delinsTTTGGGATAACCAGGG...
ENST00000502613.1:c.2368_2416delinsATACTATCCCTGGTTATCCCAAA (BMP2K)
ENST00000511594.5:c.*303_*351delinsTTTGGGATAACCAGGGATAGTAT (PAQR3)	ENSP00000425080.1:n.*303_*351delinsTTTGGGATAACCAGGGATAGTAT
ENST00000512760.5:c.*792+3324_*792+3372delinsTTTGGGATAACCAGGGATAGTAT (PAQR3)	ENSP00000426875.1:n.*792+3324_*792+3372delinsTTTGGGATAACCAGGG...
ENST00000628286.1:c.*2267_*2315delinsATACTATCCCTGGTTATCCCAAA (BMP2K)	ENSP00000487317.1:n.*2267_*2315delinsATACTATCCCTGGTTATCCCAAA
NM_198892.1:c.3291_3339delinsATACTATCCCTGGTTATCCCAAA (BMP2K)	NP_942595.1:p.Val1098TyrfsTer16
XM_005263117.1:c.3180_3228delinsATACTATCCCTGGTTATCCCAAA (BMP2K)	XP_005263174.1:p.Val1061TyrfsTer16
XM_011532101.1:c.3051_3099delinsATACTATCCCTGGTTATCCCAAA (BMP2K)	XP_011530403.1:p.Val1018TyrfsTer16
XR_938694.1:n.1118-5725_1118-5677delinsTTTGGGATAACCAGGGATAGTAT (PAQR3)
XM_017008381.1:c.3051_3099delinsATACTATCCCTGGTTATCCCAAA (BMP2K)	XP_016863870.1:p.Val1018TyrfsTer16
XM_017008382.1:c.2403_2451delinsATACTATCCCTGGTTATCCCAAA (BMP2K)	XP_016863871.1:p.Val802TyrfsTer16
XR_938694.3:n.1098-5725_1098-5677delinsTTTGGGATAACCAGGGATAGTAT (PAQR3)
NM_198892.2:c.3291_3339delinsATACTATCCCTGGTTATCCCAAA (BMP2K) MANE Select	NP_942595.1:p.Val1098TyrfsTer16