Canonical Allele Identifier: CA553475567
Gene: UNC5C HGNC NCBI

Linked Data

dbSNP Id: rs1158789321
gnomAD v2: 4-96458271-GT-G
gnomAD v3: 4-95537120-GT-G
gnomAD v4: 4-95537120-GT-G
MyVariant Identifiers: chr4:g.96458272del (hg19) chr4:g.95537121del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.95537129del , CM000666.2:g.95537129del GRCh38
NC_000004.11:g.96458280del , CM000666.1:g.96458280del GRCh37
NC_000004.10:g.96677303del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000453304.6:c.124+11613del MANE Select ENSP00000406022.1:n.124+11613del
ENST00000453304.5:c.124+11613del ENSP00000406022.1:n.124+11613del
ENST00000504962.1:c.124+11613del ENSP00000425117.1:n.124+11613del
ENST00000506749.5:c.124+11613del ENSP00000426153.1:n.124+11613del
ENST00000513796.5:c.124+11613del ENSP00000426924.1:n.124+11613del
NM_003728.3:c.124+11613del NP_003719.3:n.124+11613del
XM_005263321.2:c.124+11613del XP_005263378.1:n.124+11613del
XM_005263321.3:c.124+11613del XP_005263378.1:n.124+11613del
NM_003728.4:c.124+11613del MANE Select NP_003719.3:n.124+11613del
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