Canonical Allele Identifier: CA279222

Gene: NXPE3

Linked Data

• ClinVar Variation Id: 208921
• ClinVar RCV Id: RCV000201360
• dbSNP Id: rs863223381
• MyVariant Identifiers: chr3:g.101520447del (hg19) ; chr3:g.101801603del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101801604del , CM000665.2:g.101801604del	GRCh38
NC_000003.11:g.101520448del , CM000665.1:g.101520448del	GRCh37
NC_000003.10:g.103003138del	NCBI36
NG_053180.1:g.27420del
NG_053180.2:g.27420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474165.6:c.463del	ENSP00000419667.2:p.Ala155LeufsTer?
ENST00000487830.2:c.463del	ENSP00000515931.1:p.Ala155LeufsTer?
ENST00000495842.6:c.463del	ENSP00000418381.2:p.Ala155LeufsTer?
ENST00000704528.1:c.463del	ENSP00000515917.1:p.Ala155LeufsTer?
ENST00000704529.1:c.463del	ENSP00000515918.1:p.Ala155LeufsTer?
ENST00000704530.1:c.463del	ENSP00000515919.1:p.Ala155LeufsTer?
ENST00000704532.1:c.463del	ENSP00000515920.1:p.Ala155LeufsTer?
ENST00000704533.1:c.*694del	ENSP00000515921.1:n.*694del
ENST00000704534.1:c.*481del	ENSP00000515922.1:n.*481del
ENST00000704535.1:c.94-5449del	ENSP00000515923.1:n.94-5449del
ENST00000704536.1:c.463del	ENSP00000515924.1:p.Ala155LeufsTer?
ENST00000704537.1:c.*378del	ENSP00000515925.1:n.*378del
ENST00000704538.1:c.*402del	ENSP00000515926.1:n.*402del
ENST00000704539.1:c.463del	ENSP00000515927.1:p.Ala155LeufsTer?
ENST00000704540.1:c.94-15191del	ENSP00000515928.1:n.94-15191del
ENST00000704541.1:c.*611del	ENSP00000515929.1:n.*611del
ENST00000704542.1:c.94-5449del	ENSP00000515930.1:n.94-5449del
ENST00000704543.1:c.463del	ENSP00000516135.1:p.Ala155LeufsTer?
ENST00000704544.1:c.463del	ENSP00000515932.1:p.Ala155LeufsTer?
ENST00000704545.1:c.463del	ENSP00000515933.1:p.Ala155LeufsTer?
ENST00000704546.1:c.463del	ENSP00000515934.1:p.Ala155LeufsTer?
ENST00000704547.1:c.463del	ENSP00000515935.1:p.Ala155LeufsTer?
ENST00000704548.1:c.463del	ENSP00000515936.1:p.Ala155LeufsTer?
ENST00000704549.1:c.463del	ENSP00000515937.1:p.Ala155LeufsTer?
ENST00000704550.1:c.457del	ENSP00000515938.1:p.Ala153LeufsTer?
ENST00000704551.1:c.463del	ENSP00000515939.1:p.Ala155LeufsTer?
ENST00000704552.1:c.463del	ENSP00000515940.1:p.Ala155LeufsTer?
ENST00000704553.1:c.379del	ENSP00000515941.1:p.Ala127LeufsTer?
ENST00000705586.1:c.463del	ENSP00000516140.1:p.Ala155LeufsTer?
ENST00000273347.10:c.463del MANE Select	ENSP00000273347.5:p.Ala155LeufsTer?
ENST00000273347.9:c.463del	ENSP00000273347.5:p.Ala155LeufsTer?
ENST00000422132.1:c.463del	ENSP00000396421.1:p.Ala155LeufsTer?
ENST00000477909.5:c.463del	ENSP00000418369.1:p.Ala155LeufsTer?
ENST00000491511.6:c.463del	ENSP00000417485.1:p.Ala155LeufsTer?
NM_001134456.1:c.463del	NP_001127928.1:p.Ala155LeufsTer?
NM_145037.2:c.463del	NP_659474.1:p.Ala155LeufsTer?
NM_001348990.1:c.463del	NP_001335919.1:p.Ala155LeufsTer?
NM_001348991.1:c.463del	NP_001335920.1:p.Ala155LeufsTer?
NM_001348992.1:c.463del	NP_001335921.1:p.Ala155LeufsTer?
NM_001348993.1:c.463del	NP_001335922.1:p.Ala155LeufsTer?
NM_001348994.1:c.463del	NP_001335923.1:p.Ala155LeufsTer?
NM_001348995.1:c.463del	NP_001335924.1:p.Ala155LeufsTer?
NM_001348996.1:c.463del	NP_001335925.1:p.Ala155LeufsTer?
NM_001348997.1:c.463del	NP_001335926.1:p.Ala155LeufsTer?
NM_001348998.1:c.463del	NP_001335927.1:p.Ala155LeufsTer?
NM_145037.3:c.463del	NP_659474.1:p.Ala155LeufsTer?
NR_145993.1:n.1108del
NM_145037.4:c.463del MANE Select	NP_659474.1:p.Ala155LeufsTer?
NM_001134456.2:c.463del	NP_001127928.1:p.Ala155LeufsTer?
NM_001348990.2:c.463del	NP_001335919.1:p.Ala155LeufsTer?
NM_001348991.2:c.463del	NP_001335920.1:p.Ala155LeufsTer?
NM_001348992.2:c.463del	NP_001335921.1:p.Ala155LeufsTer?
NM_001348993.2:c.463del	NP_001335922.1:p.Ala155LeufsTer?
NM_001348994.2:c.463del	NP_001335923.1:p.Ala155LeufsTer?
NM_001348995.2:c.463del	NP_001335924.1:p.Ala155LeufsTer?
NM_001348996.2:c.463del	NP_001335925.1:p.Ala155LeufsTer?
NM_001348997.2:c.463del	NP_001335926.1:p.Ala155LeufsTer?
NM_001348998.2:c.463del	NP_001335927.1:p.Ala155LeufsTer?
NR_145993.2:n.1074del