Canonical Allele Identifier: CA620369764
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs1567335495
gnomAD v2: 16-2035690-CG-C
gnomAD v3: 16-1985689-CG-C
gnomAD v4: 16-1985689-CG-C
MyVariant Identifiers: chr16:g.2035691del (hg19) chr16:g.1985690del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985693del , CM000678.2:g.1985693del GRCh38
NC_000016.9:g.2035694del , CM000678.1:g.2035694del GRCh37
NC_000016.8:g.1975695del NCBI36
NG_016288.1:g.6545del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.231-173del ENSP00000455885.1:n.231-173del
ENST00000248114.7:c.456-173del MANE Select ENSP00000248114.6:n.456-173del
ENST00000248114.6:c.456-173del ENSP00000248114.6:n.456-173del
ENST00000565658.1:n.613-173del
ENST00000567719.1:c.231-173del ENSP00000455885.1:n.231-173del
ENST00000569451.1:c.259-173del ENSP00000456432.1:n.259-173del
NM_005262.2:c.456-173del NP_005253.3:n.456-173del
NM_005262.3:c.456-173del MANE Select NP_005253.3:n.456-173del
Search 100 bp 5'
Search 100 bp 3'