Canonical Allele Identifier: CA2575875459
Gene: GFER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985807_1985808del , CM000678.2:g.1985807_1985808del GRCh38
NC_000016.9:g.2035808_2035809del , CM000678.1:g.2035808_2035809del GRCh37
NC_000016.8:g.1975809_1975810del NCBI36
NG_016288.1:g.6659_6660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.231-59_231-58del ENSP00000455885.1:n.231-59_231-58del
ENST00000248114.7:c.456-59_456-58del MANE Select ENSP00000248114.6:n.456-59_456-58del
ENST00000248114.6:c.456-59_456-58del ENSP00000248114.6:n.456-59_456-58del
ENST00000565658.1:n.613-59_613-58del
ENST00000567719.1:c.231-59_231-58del ENSP00000455885.1:n.231-59_231-58del
ENST00000569451.1:c.259-59_259-58del ENSP00000456432.1:n.259-59_259-58del
NM_005262.2:c.456-59_456-58del NP_005253.3:n.456-59_456-58del
NM_005262.3:c.456-59_456-58del MANE Select NP_005253.3:n.456-59_456-58del