Canonical Allele Identifier: CA553568440

Gene: MTTP

Linked Data

• ClinVar Variation Id: 1570830
• ClinVar RCV Id: RCV002217245
• dbSNP Id: rs1476547239
• gnomAD v2: 4-100504508-CAGCT-C
• gnomAD v3: 4-99583351-CAGCT-C
• gnomAD v4: 4-99583351-CAGCT-C
• MyVariant Identifiers: chr4:g.100504509_100504512del (hg19) ; chr4:g.99583352_99583355del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583352_99583355del , CM000666.2:g.99583352_99583355del	GRCh38
NC_000004.11:g.100504509_100504512del , CM000666.1:g.100504509_100504512del	GRCh37
NC_000004.10:g.100723532_100723535del	NCBI36
NG_011469.1:g.24270_24273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.250-22_250-19del MANE Select	ENSP00000265517.5:n.250-22_250-19del
ENST00000457717.6:c.250-22_250-19del	ENSP00000400821.1:n.250-22_250-19del
ENST00000505094.6:c.1-22_1-19del	ENSP00000422782.2:n.1-22_1-19del
ENST00000511045.6:c.1-22_1-19del	ENSP00000427679.2:n.1-22_1-19del
ENST00000265517.9:c.250-22_250-19del	ENSP00000265517.5:n.250-22_250-19del
ENST00000422897.6:c.250-22_250-19del	ENSP00000407350.2:n.250-22_250-19del
ENST00000457717.5:c.250-22_250-19del	ENSP00000400821.1:n.250-22_250-19del
ENST00000505094.5:c.*340-22_*340-19del	ENSP00000422782.1:n.*340-22_*340-19del
ENST00000506883.5:c.280-22_280-19del	ENSP00000426755.1:n.280-22_280-19del
ENST00000511045.5:c.331-22_331-19del	ENSP00000427679.1:n.331-22_331-19del
ENST00000513404.5:c.*313-22_*313-19del	ENSP00000424972.1:n.*313-22_*313-19del
ENST00000515141.5:c.*313-22_*313-19del	ENSP00000425642.1:n.*313-22_*313-19del
ENST00000619629.1:c.250-22_250-19del	ENSP00000482850.1:n.250-22_250-19del
NM_000253.3:c.250-22_250-19del	NP_000244.2:n.250-22_250-19del
NM_001300785.1:c.331-22_331-19del	NP_001287714.1:n.331-22_331-19del
NM_000253.4:c.250-22_250-19del	NP_000244.2:n.250-22_250-19del
NM_001300785.2:c.1-22_1-19del	NP_001287714.2:n.1-22_1-19del
NM_001386140.1:c.250-22_250-19del MANE Select	NP_001373069.1:n.250-22_250-19del