Canonical Allele Identifier: CA2201967766
Gene: GFER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985943_1985945delinsACC , CM000678.2:g.1985943_1985945delinsACC GRCh38
NC_000016.9:g.2035944_2035946delinsACC , CM000678.1:g.2035944_2035946delinsACC GRCh37
NC_000016.8:g.1975945_1975947delinsACC NCBI36
NG_016288.1:g.6795_6797delinsACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.308_310delinsACC ENSP00000455885.1:p.Asn103=
ENST00000248114.7:c.533_535delinsACC MANE Select ENSP00000248114.6:p.Asn178=
ENST00000248114.6:c.533_535delinsACC ENSP00000248114.6:p.Asn178=
ENST00000565658.1:n.690_692delinsACC
ENST00000567719.1:c.308_310delinsACC ENSP00000455885.1:p.Asn103=
ENST00000569451.1:c.*6_*8delinsACC ENSP00000456432.1:n.*6_*8delinsACC
NM_005262.2:c.533_535delinsACC NP_005253.3:p.Asn178=
NM_005262.3:c.533_535delinsACC MANE Select NP_005253.3:p.Asn178=