Canonical Allele Identifier: CA2672444878
Gene: FGG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154604916_154604917del , CM000666.2:g.154604916_154604917del GRCh38
NC_000004.11:g.155526068_155526069del , CM000666.1:g.155526068_155526069del GRCh37
NC_000004.10:g.155745518_155745519del NCBI36
NG_008834.1:g.12835_12836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000336098.8:c.1280_1281del MANE Select ENSP00000336829.3:p.His427ProfsTer18
ENST00000336098.7:c.1280_1281del ENSP00000336829.3:p.His427ProfsTer18
ENST00000404648.7:c.1280_1281del ENSP00000384860.3:p.His427ProfsTer22
ENST00000405164.5:c.1304_1305del ENSP00000384101.1:p.His435ProfsTer22
ENST00000407946.5:c.1304_1305del ENSP00000384552.1:p.His435ProfsTer18
ENST00000465913.1:n.828_829del
ENST00000492082.5:n.1822_1823del
NM_000509.4:c.1280_1281del NP_000500.2:p.His427ProfsTer22
NM_000509.5:c.1280_1281del NP_000500.2:p.His427ProfsTer22
NM_021870.2:c.1280_1281del NP_068656.2:p.His427ProfsTer18
NM_021870.3:c.1280_1281del MANE Select NP_068656.2:p.His427ProfsTer18
NM_000509.6:c.1280_1281del NP_000500.2:p.His427ProfsTer22