Canonical Allele Identifier: CA2671535543

Gene: MTTP

Linked Data

• gnomAD v4: 4-99622814-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622815del , CM000666.2:g.99622815del	GRCh38
NC_000004.11:g.100543972del , CM000666.1:g.100543972del	GRCh37
NC_000004.10:g.100762995del	NCBI36
NG_011469.1:g.63733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2652del MANE Select	ENSP00000265517.5:p.Gln885SerfsTer15
ENST00000457717.6:c.2652del	ENSP00000400821.1:p.Gln885SerfsTer15
ENST00000511045.6:c.2403del	ENSP00000427679.2:p.Gln802SerfsTer15
ENST00000265517.9:c.2652del	ENSP00000265517.5:p.Gln885SerfsTer15
ENST00000457717.5:c.2652del	ENSP00000400821.1:p.Gln885SerfsTer15
ENST00000511045.5:c.2733del	ENSP00000427679.1:p.Gln912SerfsTer15
ENST00000619629.1:c.*1099del	ENSP00000482850.1:n.*1099del
NM_000253.3:c.2652del	NP_000244.2:p.Gln885SerfsTer15
NM_001300785.1:c.2733del	NP_001287714.1:p.Gln912SerfsTer15
NM_000253.4:c.2652del	NP_000244.2:p.Gln885SerfsTer15
NM_001300785.2:c.2403del	NP_001287714.2:p.Gln802SerfsTer15
NM_001386140.1:c.2652del MANE Select	NP_001373069.1:p.Gln885SerfsTer15