Canonical Allele Identifier: CA1480079149

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600572_99600579delinsCTGGTGGA , CM000666.2:g.99600572_99600579delinsCTGGTGGA	GRCh38
NC_000004.11:g.100521729_100521736delinsCTGGTGGA , CM000666.1:g.100521729_100521736delinsCTGGTGGA	GRCh37
NC_000004.10:g.100740752_100740759delinsCTGGTGGA	NCBI36
NG_011469.1:g.41490_41497delinsCTGGTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1075_1082delinsCTGGTGGA MANE Select	ENSP00000265517.5:p.Leu359=
ENST00000457717.6:c.1075_1082delinsCTGGTGGA	ENSP00000400821.1:p.Leu359=
ENST00000511045.6:c.826_833delinsCTGGTGGA	ENSP00000427679.2:p.Leu276=
ENST00000265517.9:c.1075_1082delinsCTGGTGGA	ENSP00000265517.5:p.Leu359=
ENST00000457717.5:c.1075_1082delinsCTGGTGGA	ENSP00000400821.1:p.Leu359=
ENST00000511045.5:c.1156_1163delinsCTGGTGGA	ENSP00000427679.1:p.Leu386=
ENST00000619629.1:c.1075_1082delinsCTGGTGGA	ENSP00000482850.1:p.Leu359=
NM_000253.3:c.1075_1082delinsCTGGTGGA	NP_000244.2:p.Leu359=
NM_001300785.1:c.1156_1163delinsCTGGTGGA	NP_001287714.1:p.Leu386=
NM_000253.4:c.1075_1082delinsCTGGTGGA	NP_000244.2:p.Leu359=
NM_001300785.2:c.826_833delinsCTGGTGGA	NP_001287714.2:p.Leu276=
NM_001386140.1:c.1075_1082delinsCTGGTGGA MANE Select	NP_001373069.1:p.Leu359=