Canonical Allele Identifier: CA2671535544

Gene: MTTP

Linked Data

• gnomAD v4: 4-99622847-G-GGAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622847_99622848insGAAAAAAAAAAAAAA , CM000666.2:g.99622847_99622848insGAAAAAAAAAAAAAA	GRCh38
NC_000004.11:g.100544004_100544005insGAAAAAAAAAAAAAA , CM000666.1:g.100544004_100544005insGAAAAAAAAAAAAAA	GRCh37
NC_000004.10:g.100763027_100763028insGAAAAAAAAAAAAAA	NCBI36
NG_011469.1:g.63765_63766insGAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2684_2685insGAAAAAAAAAAAAAA MANE Select	ENSP00000265517.5:p.Ter895delinsTrpLysLysLysLysLys
ENST00000457717.6:c.2684_2685insGAAAAAAAAAAAAAA	ENSP00000400821.1:p.Ter895delinsTrpLysLysLysLysLys
ENST00000511045.6:c.2435_2436insGAAAAAAAAAAAAAA	ENSP00000427679.2:p.Ter812delinsTrpLysLysLysLysLys
ENST00000265517.9:c.2684_2685insGAAAAAAAAAAAAAA	ENSP00000265517.5:p.Ter895delinsTrpLysLysLysLysLys
ENST00000457717.5:c.2684_2685insGAAAAAAAAAAAAAA	ENSP00000400821.1:p.Ter895delinsTrpLysLysLysLysLys
ENST00000511045.5:c.2765_2766insGAAAAAAAAAAAAAA	ENSP00000427679.1:p.Ter922delinsTrpLysLysLysLysLys
ENST00000619629.1:c.*1131_*1132insGAAAAAAAAAAAAAA	ENSP00000482850.1:n.*1131_*1132insGAAAAAAAAAAAAAA
NM_000253.3:c.2684_2685insGAAAAAAAAAAAAAA	NP_000244.2:p.Ter895delinsTrpLysLysLysLysLys
NM_001300785.1:c.2765_2766insGAAAAAAAAAAAAAA	NP_001287714.1:p.Ter922delinsTrpLysLysLysLysLys
NM_000253.4:c.2684_2685insGAAAAAAAAAAAAAA	NP_000244.2:p.Ter895delinsTrpLysLysLysLysLys
NM_001300785.2:c.2435_2436insGAAAAAAAAAAAAAA	NP_001287714.2:p.Ter812delinsTrpLysLysLysLysLys
NM_001386140.1:c.2684_2685insGAAAAAAAAAAAAAA MANE Select	NP_001373069.1:p.Ter895delinsTrpLysLysLysLysLys