Canonical Allele Identifier: CA1480082394

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99608767_99608770delinsTGAA , CM000666.2:g.99608767_99608770delinsTGAA	GRCh38
NC_000004.11:g.100529924_100529927delinsTGAA , CM000666.1:g.100529924_100529927delinsTGAA	GRCh37
NC_000004.10:g.100748947_100748950delinsTGAA	NCBI36
NG_011469.1:g.49685_49688delinsTGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.1559_1562delinsTGAA MANE Select	ENSP00000265517.5:p.Val520=
ENST00000457717.6:c.1559_1562delinsTGAA	ENSP00000400821.1:p.Val520=
ENST00000511045.6:c.1310_1313delinsTGAA	ENSP00000427679.2:p.Val437=
ENST00000265517.9:c.1559_1562delinsTGAA	ENSP00000265517.5:p.Val520=
ENST00000457717.5:c.1559_1562delinsTGAA	ENSP00000400821.1:p.Val520=
ENST00000511045.5:c.1640_1643delinsTGAA	ENSP00000427679.1:p.Val547=
ENST00000619629.1:c.*6_*9delinsTGAA	ENSP00000482850.1:n.*6_*9delinsTGAA
NM_000253.3:c.1559_1562delinsTGAA	NP_000244.2:p.Val520=
NM_001300785.1:c.1640_1643delinsTGAA	NP_001287714.1:p.Val547=
NM_000253.4:c.1559_1562delinsTGAA	NP_000244.2:p.Val520=
NM_001300785.2:c.1310_1313delinsTGAA	NP_001287714.2:p.Val437=
NM_001386140.1:c.1559_1562delinsTGAA MANE Select	NP_001373069.1:p.Val520=