Canonical Allele Identifier: CA553568414

Gene: MTTP

Linked Data

• dbSNP Id: rs1560621108
• gnomAD v2: 4-100521872-ACTC-A
• gnomAD v4: 4-99600715-ACTC-A
• MyVariant Identifiers: chr4:g.100521873_100521875del (hg19) ; chr4:g.99600716_99600718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600718_99600720del , CM000666.2:g.99600718_99600720del	GRCh38
NC_000004.11:g.100521875_100521877del , CM000666.1:g.100521875_100521877del	GRCh37
NC_000004.10:g.100740898_100740900del	NCBI36
NG_011469.1:g.41636_41638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1221_1223del MANE Select	ENSP00000265517.5:p.Leu408del
ENST00000457717.6:c.1221_1223del	ENSP00000400821.1:p.Leu408del
ENST00000511045.6:c.972_974del	ENSP00000427679.2:p.Leu325del
ENST00000265517.9:c.1221_1223del	ENSP00000265517.5:p.Leu408del
ENST00000457717.5:c.1221_1223del	ENSP00000400821.1:p.Leu408del
ENST00000511045.5:c.1302_1304del	ENSP00000427679.1:p.Leu435del
ENST00000619629.1:c.1221_1223del	ENSP00000482850.1:p.Leu408del
NM_000253.3:c.1221_1223del	NP_000244.2:p.Leu408del
NM_001300785.1:c.1302_1304del	NP_001287714.1:p.Leu435del
NM_000253.4:c.1221_1223del	NP_000244.2:p.Leu408del
NM_001300785.2:c.972_974del	NP_001287714.2:p.Leu325del
NM_001386140.1:c.1221_1223del MANE Select	NP_001373069.1:p.Leu408del