Canonical Allele Identifier: CA3021819

Gene: MTTP

Linked Data

• dbSNP Id: rs776795212
• ExAC: 4:100504722 T / TCAACATTTACA
• MyVariant Identifiers: chr4:g.100504722_100504723insCAACATTTACA (hg19) ; chr4:g.99583565_99583566insCAACATTTACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583565_99583566insCAACATTTACA , CM000666.2:g.99583565_99583566insCAACATTTACA	GRCh38
NC_000004.11:g.100504722_100504723insCAACATTTACA , CM000666.1:g.100504722_100504723insCAACATTTACA	GRCh37
NC_000004.10:g.100723745_100723746insCAACATTTACA	NCBI36
NG_011469.1:g.24483_24484insCAACATTTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.393+48_393+49insCAACATTTACA MANE Select	ENSP00000265517.5:n.393+48_393+49insCAACATTTACA
ENST00000457717.6:c.393+48_393+49insCAACATTTACA	ENSP00000400821.1:n.393+48_393+49insCAACATTTACA
ENST00000511045.6:c.144+48_144+49insCAACATTTACA	ENSP00000427679.2:n.144+48_144+49insCAACATTTACA
ENST00000265517.9:c.393+48_393+49insCAACATTTACA	ENSP00000265517.5:n.393+48_393+49insCAACATTTACA
ENST00000422897.6:c.441_442insCAACATTTACA	ENSP00000407350.2:p.Ser148GlnfsTer18
ENST00000457717.5:c.393+48_393+49insCAACATTTACA	ENSP00000400821.1:n.393+48_393+49insCAACATTTACA
ENST00000506883.5:c.423+48_423+49insCAACATTTACA	ENSP00000426755.1:n.423+48_423+49insCAACATTTACA
ENST00000511045.5:c.474+48_474+49insCAACATTTACA	ENSP00000427679.1:n.474+48_474+49insCAACATTTACA
ENST00000619629.1:c.393+48_393+49insCAACATTTACA	ENSP00000482850.1:n.393+48_393+49insCAACATTTACA
NM_000253.3:c.393+48_393+49insCAACATTTACA	NP_000244.2:n.393+48_393+49insCAACATTTACA
NM_001300785.1:c.474+48_474+49insCAACATTTACA	NP_001287714.1:n.474+48_474+49insCAACATTTACA
NM_000253.4:c.393+48_393+49insCAACATTTACA	NP_000244.2:n.393+48_393+49insCAACATTTACA
NM_001300785.2:c.144+48_144+49insCAACATTTACA	NP_001287714.2:n.144+48_144+49insCAACATTTACA
NM_001386140.1:c.393+48_393+49insCAACATTTACA MANE Select	NP_001373069.1:n.393+48_393+49insCAACATTTACA