Canonical Allele Identifier: CA1470756868

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs1734634071

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911818_78911819insCTAATGT , CM000666.2:g.78911818_78911819insCTAATGT	GRCh38
NC_000004.11:g.79832972_79832973insCTAATGT , CM000666.1:g.79832972_79832973insCTAATGT	GRCh37
NC_000004.10:g.80051996_80051997insCTAATGT	NCBI36
NG_047162.1:g.140441_140442insCTAATGT
NG_053104.1:g.32620_32621insACATTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3271_3272insCTAATGT (BMP2K) MANE Select	ENSP00000424668.2:p.Ile1091ThrfsTer6
ENST00000335016.9:c.3271_3272insCTAATGT (BMP2K)	ENSP00000334836.5:p.Ile1091ThrfsTer6
ENST00000342820.10:c.*782+3391_*782+3392insACATTAG (PAQR3)	ENSP00000344203.6:n.*782+3391_*782+3392insACATTAG
ENST00000502613.1:c.2348_2349insCTAATGT (BMP2K)
ENST00000511594.5:c.*370_*371insACATTAG (PAQR3)	ENSP00000425080.1:n.*370_*371insACATTAG
ENST00000512760.5:c.*792+3391_*792+3392insACATTAG (PAQR3)	ENSP00000426875.1:n.*792+3391_*792+3392insACATTAG
ENST00000628286.1:c.*2247_*2248insCTAATGT (BMP2K)	ENSP00000487317.1:n.*2247_*2248insCTAATGT
NM_198892.1:c.3271_3272insCTAATGT (BMP2K)	NP_942595.1:p.Ile1091ThrfsTer6
XM_005263117.1:c.3160_3161insCTAATGT (BMP2K)	XP_005263174.1:p.Ile1054ThrfsTer6
XM_011532101.1:c.3031_3032insCTAATGT (BMP2K)	XP_011530403.1:p.Ile1011ThrfsTer6
XR_938694.1:n.1118-5658_1118-5657insACATTAG (PAQR3)
XM_017008381.1:c.3031_3032insCTAATGT (BMP2K)	XP_016863870.1:p.Ile1011ThrfsTer6
XM_017008382.1:c.2383_2384insCTAATGT (BMP2K)	XP_016863871.1:p.Ile795ThrfsTer6
XR_938694.3:n.1098-5658_1098-5657insACATTAG (PAQR3)
NM_198892.2:c.3271_3272insCTAATGT (BMP2K) MANE Select	NP_942595.1:p.Ile1091ThrfsTer6