Canonical Allele Identifier: CA2762812142
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600765_99600766insACA , CM000666.2:g.99600765_99600766insACA GRCh38
NC_000004.11:g.100521922_100521923insACA , CM000666.1:g.100521922_100521923insACA GRCh37
NC_000004.10:g.100740945_100740946insACA NCBI36
NG_011469.1:g.41683_41684insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1236+32_1236+33insACA MANE Select ENSP00000265517.5:n.1236+32_1236+33insACA
ENST00000457717.6:c.1236+32_1236+33insACA ENSP00000400821.1:n.1236+32_1236+33insACA
ENST00000511045.6:c.987+32_987+33insACA ENSP00000427679.2:n.987+32_987+33insACA
ENST00000265517.9:c.1236+32_1236+33insACA ENSP00000265517.5:n.1236+32_1236+33insACA
ENST00000457717.5:c.1236+32_1236+33insACA ENSP00000400821.1:n.1236+32_1236+33insACA
ENST00000511045.5:c.1317+32_1317+33insACA ENSP00000427679.1:n.1317+32_1317+33insACA
ENST00000619629.1:c.1236+32_1236+33insACA ENSP00000482850.1:n.1236+32_1236+33insACA
NM_000253.3:c.1236+32_1236+33insACA NP_000244.2:n.1236+32_1236+33insACA
NM_001300785.1:c.1317+32_1317+33insACA NP_001287714.1:n.1317+32_1317+33insACA
NM_000253.4:c.1236+32_1236+33insACA NP_000244.2:n.1236+32_1236+33insACA
NM_001300785.2:c.987+32_987+33insACA NP_001287714.2:n.987+32_987+33insACA
NM_001386140.1:c.1236+32_1236+33insACA MANE Select NP_001373069.1:n.1236+32_1236+33insACA