Canonical Allele Identifier: CA2631092520
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1985956-CAAGCCTGACTTCGACTGCTCAAAAGTGGATGAGCGCTGGCGCGACGGCTGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985960_1986010del , CM000678.2:g.1985960_1986010del GRCh38
NC_000016.9:g.2035961_2036011del , CM000678.1:g.2035961_2036011del GRCh37
NC_000016.8:g.1975962_1976012del NCBI36
NG_016288.1:g.6812_6862del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.325_375del ENSP00000455885.1:p.Pro109_Lys125del
ENST00000248114.7:c.550_600del MANE Select ENSP00000248114.6:p.Pro184_Lys200del
ENST00000248114.6:c.550_600del ENSP00000248114.6:p.Pro184_Lys200del
ENST00000565658.1:n.707_757del
ENST00000567719.1:c.325_375del ENSP00000455885.1:p.Pro109_Lys125del
ENST00000569451.1:c.*23_*73del ENSP00000456432.1:n.*23_*73del
NM_005262.2:c.550_600del NP_005253.3:p.Pro184_Lys200del
NM_005262.3:c.550_600del MANE Select NP_005253.3:p.Pro184_Lys200del
Search 100 bp 5'
Search 100 bp 3'