Canonical Allele Identifier: CA2762812235
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600849_99600850insCAG , CM000666.2:g.99600849_99600850insCAG GRCh38
NC_000004.11:g.100522006_100522007insCAG , CM000666.1:g.100522006_100522007insCAG GRCh37
NC_000004.10:g.100741029_100741030insCAG NCBI36
NG_011469.1:g.41767_41768insCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1236+116_1236+117insCAG MANE Select ENSP00000265517.5:n.1236+116_1236+117insCAG
ENST00000457717.6:c.1236+116_1236+117insCAG ENSP00000400821.1:n.1236+116_1236+117insCAG
ENST00000511045.6:c.987+116_987+117insCAG ENSP00000427679.2:n.987+116_987+117insCAG
ENST00000265517.9:c.1236+116_1236+117insCAG ENSP00000265517.5:n.1236+116_1236+117insCAG
ENST00000457717.5:c.1236+116_1236+117insCAG ENSP00000400821.1:n.1236+116_1236+117insCAG
ENST00000511045.5:c.1317+116_1317+117insCAG ENSP00000427679.1:n.1317+116_1317+117insCAG
ENST00000619629.1:c.1236+116_1236+117insCAG ENSP00000482850.1:n.1236+116_1236+117insCAG
NM_000253.3:c.1236+116_1236+117insCAG NP_000244.2:n.1236+116_1236+117insCAG
NM_001300785.1:c.1317+116_1317+117insCAG NP_001287714.1:n.1317+116_1317+117insCAG
NM_000253.4:c.1236+116_1236+117insCAG NP_000244.2:n.1236+116_1236+117insCAG
NM_001300785.2:c.987+116_987+117insCAG NP_001287714.2:n.987+116_987+117insCAG
NM_001386140.1:c.1236+116_1236+117insCAG MANE Select NP_001373069.1:n.1236+116_1236+117insCAG