Canonical Allele Identifier: CA645614695
Community Standard Title: NM_001271938.2(MEGF8):c.6499_6500delinsTT (p.Pro2167Leu)
Gene: MEGF8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42368860_42368861delinsTT , CM000681.2:g.42368860_42368861delinsTT GRCh38
NC_000019.9:g.42873012_42873013delinsTT , CM000681.1:g.42873012_42873013delinsTT GRCh37
NC_000019.8:g.47564852_47564853delinsTT NCBI36
NG_033030.1:g.48252_48253delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_001271938.2:c.6499_6500delinsTT MANE Select NP_001258867.1:p.Pro2167Leu
ENST00000251268.11:c.6499_6500delinsTT MANE Select ENSP00000251268.5:p.Pro2167Leu
NM_001271938.1:c.6499_6500delinsTT NP_001258867.1:p.Pro2167Leu
NM_001410.2:c.6298_6299delinsTT NP_001401.2:p.Pro2100Leu
NM_001410.3:c.6298_6299delinsTT NP_001401.2:p.Pro2100Leu
ENST00000251268.10:c.6499_6500delinsTT ENSP00000251268.5:p.Pro2167Leu
ENST00000334370.8:c.6298_6299delinsTT ENSP00000334219.4:p.Pro2100Leu
ENST00000378073.5:c.-587_-586delinsTT ENSP00000367313.4:n.-587_-586delinsTT
ENST00000598762.1:c.161+6647_161+6648delinsTT