Canonical Allele Identifier: CA3022430

Gene: MTTP

Linked Data

• ExAC: 4:100544003 T / TAATCA
• gnomAD v4: 4-99622846-T-TAATCA
• MyVariant Identifiers: chr4:g.100544003_100544004insAATCA (hg19) ; chr4:g.99622846_99622847insAATCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622846_99622847insAATCA , CM000666.2:g.99622846_99622847insAATCA	GRCh38
NC_000004.11:g.100544003_100544004insAATCA , CM000666.1:g.100544003_100544004insAATCA	GRCh37
NC_000004.10:g.100763026_100763027insAATCA	NCBI36
NG_011469.1:g.63764_63765insAATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2683_2684insAATCA MANE Select	ENSP00000265517.5:p.Ter895=
ENST00000457717.6:c.2683_2684insAATCA	ENSP00000400821.1:p.Ter895=
ENST00000511045.6:c.2434_2435insAATCA	ENSP00000427679.2:p.Ter812=
ENST00000265517.9:c.2683_2684insAATCA	ENSP00000265517.5:p.Ter895=
ENST00000457717.5:c.2683_2684insAATCA	ENSP00000400821.1:p.Ter895=
ENST00000511045.5:c.2764_2765insAATCA	ENSP00000427679.1:p.Ter922=
ENST00000619629.1:c.*1130_*1131insAATCA	ENSP00000482850.1:n.*1130_*1131insAATCA
NM_000253.3:c.2683_2684insAATCA	NP_000244.2:p.Ter895=
NM_001300785.1:c.2764_2765insAATCA	NP_001287714.1:p.Ter922=
NM_000253.4:c.2683_2684insAATCA	NP_000244.2:p.Ter895=
NM_001300785.2:c.2434_2435insAATCA	NP_001287714.2:p.Ter812=
NM_001386140.1:c.2683_2684insAATCA MANE Select	NP_001373069.1:p.Ter895=