Canonical Allele Identifier: CA2762812215

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600825_99600826insAGT , CM000666.2:g.99600825_99600826insAGT	GRCh38
NC_000004.11:g.100521982_100521983insAGT , CM000666.1:g.100521982_100521983insAGT	GRCh37
NC_000004.10:g.100741005_100741006insAGT	NCBI36
NG_011469.1:g.41743_41744insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1236+92_1236+93insAGT MANE Select	ENSP00000265517.5:n.1236+92_1236+93insAGT
ENST00000457717.6:c.1236+92_1236+93insAGT	ENSP00000400821.1:n.1236+92_1236+93insAGT
ENST00000511045.6:c.987+92_987+93insAGT	ENSP00000427679.2:n.987+92_987+93insAGT
ENST00000265517.9:c.1236+92_1236+93insAGT	ENSP00000265517.5:n.1236+92_1236+93insAGT
ENST00000457717.5:c.1236+92_1236+93insAGT	ENSP00000400821.1:n.1236+92_1236+93insAGT
ENST00000511045.5:c.1317+92_1317+93insAGT	ENSP00000427679.1:n.1317+92_1317+93insAGT
ENST00000619629.1:c.1236+92_1236+93insAGT	ENSP00000482850.1:n.1236+92_1236+93insAGT
NM_000253.3:c.1236+92_1236+93insAGT	NP_000244.2:n.1236+92_1236+93insAGT
NM_001300785.1:c.1317+92_1317+93insAGT	NP_001287714.1:n.1317+92_1317+93insAGT
NM_000253.4:c.1236+92_1236+93insAGT	NP_000244.2:n.1236+92_1236+93insAGT
NM_001300785.2:c.987+92_987+93insAGT	NP_001287714.2:n.987+92_987+93insAGT
NM_001386140.1:c.1236+92_1236+93insAGT MANE Select	NP_001373069.1:n.1236+92_1236+93insAGT