Canonical Allele Identifier: CA553568510

Gene: MTTP

Linked Data

• dbSNP Id: rs1201051027
• gnomAD v2: 4-100543895-AAAG-A
• gnomAD v4: 4-99622738-AAAG-A
• MyVariant Identifiers: chr4:g.100543896_100543898del (hg19) ; chr4:g.99622739_99622741del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622741_99622743del , CM000666.2:g.99622741_99622743del	GRCh38
NC_000004.11:g.100543898_100543900del , CM000666.1:g.100543898_100543900del	GRCh37
NC_000004.10:g.100762921_100762923del	NCBI36
NG_011469.1:g.63659_63661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2578_2580del MANE Select	ENSP00000265517.5:p.Glu860del
ENST00000457717.6:c.2578_2580del	ENSP00000400821.1:p.Glu860del
ENST00000511045.6:c.2329_2331del	ENSP00000427679.2:p.Glu777del
ENST00000265517.9:c.2578_2580del	ENSP00000265517.5:p.Glu860del
ENST00000457717.5:c.2578_2580del	ENSP00000400821.1:p.Glu860del
ENST00000511045.5:c.2659_2661del	ENSP00000427679.1:p.Glu887del
ENST00000619629.1:c.*1025_*1027del	ENSP00000482850.1:n.*1025_*1027del
NM_000253.3:c.2578_2580del	NP_000244.2:p.Glu860del
NM_001300785.1:c.2659_2661del	NP_001287714.1:p.Glu887del
NM_000253.4:c.2578_2580del	NP_000244.2:p.Glu860del
NM_001300785.2:c.2329_2331del	NP_001287714.2:p.Glu777del
NM_001386140.1:c.2578_2580del MANE Select	NP_001373069.1:p.Glu860del