Canonical Allele Identifier: CA2578217954
Gene: FGG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154604775_154604787del , CM000666.2:g.154604775_154604787del GRCh38
NC_000004.11:g.155525927_155525939del , CM000666.1:g.155525927_155525939del GRCh37
NC_000004.10:g.155745377_155745389del NCBI36
NG_008834.1:g.12966_12978del

Transcript Alleles

HGVS Amino-acid Change
ENST00000336098.8:c.*49_*61del MANE Select ENSP00000336829.3:n.*49_*61del
ENST00000336098.7:c.*49_*61del ENSP00000336829.3:n.*49_*61del
ENST00000404648.7:c.1299+112_1299+124del ENSP00000384860.3:n.1299+112_1299+124del
ENST00000405164.5:c.1323+112_1323+124del ENSP00000384101.1:n.1323+112_1323+124del
ENST00000407946.5:c.*49_*61del ENSP00000384552.1:n.*49_*61del
ENST00000465913.1:n.959_971del
ENST00000492082.5:n.1841+112_1841+124del
NM_000509.4:c.1299+112_1299+124del NP_000500.2:n.1299+112_1299+124del
NM_000509.5:c.1299+112_1299+124del NP_000500.2:n.1299+112_1299+124del
NM_021870.2:c.*49_*61del NP_068656.2:n.*49_*61del
NM_021870.3:c.*49_*61del MANE Select NP_068656.2:n.*49_*61del
NM_000509.6:c.1299+112_1299+124del NP_000500.2:n.1299+112_1299+124del