Canonical Allele Identifier: CA2553108324

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583540_99583541del , CM000666.2:g.99583540_99583541del	GRCh38
NC_000004.11:g.100504697_100504698del , CM000666.1:g.100504697_100504698del	GRCh37
NC_000004.10:g.100723720_100723721del	NCBI36
NG_011469.1:g.24458_24459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.393+23_393+24del MANE Select	ENSP00000265517.5:n.393+23_393+24del
ENST00000457717.6:c.393+23_393+24del	ENSP00000400821.1:n.393+23_393+24del
ENST00000511045.6:c.144+23_144+24del	ENSP00000427679.2:n.144+23_144+24del
ENST00000265517.9:c.393+23_393+24del	ENSP00000265517.5:n.393+23_393+24del
ENST00000422897.6:c.416_417del	ENSP00000407350.2:p.Thr139AsnfsTer19
ENST00000457717.5:c.393+23_393+24del	ENSP00000400821.1:n.393+23_393+24del
ENST00000506883.5:c.423+23_423+24del	ENSP00000426755.1:n.423+23_423+24del
ENST00000511045.5:c.474+23_474+24del	ENSP00000427679.1:n.474+23_474+24del
ENST00000619629.1:c.393+23_393+24del	ENSP00000482850.1:n.393+23_393+24del
NM_000253.3:c.393+23_393+24del	NP_000244.2:n.393+23_393+24del
NM_001300785.1:c.474+23_474+24del	NP_001287714.1:n.474+23_474+24del
NM_000253.4:c.393+23_393+24del	NP_000244.2:n.393+23_393+24del
NM_001300785.2:c.144+23_144+24del	NP_001287714.2:n.144+23_144+24del
NM_001386140.1:c.393+23_393+24del MANE Select	NP_001373069.1:n.393+23_393+24del