Canonical Allele Identifier: CA2668948317
Gene: CRYGS HGNC NCBI

Linked Data

gnomAD v4: 3-186539570-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539574del , CM000665.2:g.186539574del GRCh38
NC_000003.11:g.186257363del , CM000665.1:g.186257363del GRCh37
NC_000003.10:g.187740057del NCBI36
NG_009829.1:g.9808del

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.48del MANE Select ENSP00000312099.5:p.Gln17LysfsTer18
ENST00000307944.5:c.48del ENSP00000312099.5:p.Gln17LysfsTer18
ENST00000392499.6:c.48del ENSP00000376287.2:p.Gln17LysfsTer18
ENST00000460288.1:n.950del
NM_017541.2:c.48del NP_060011.1:p.Gln17LysfsTer18
NM_017541.3:c.48del NP_060011.1:p.Gln17LysfsTer18
NM_017541.4:c.48del MANE Select NP_060011.1:p.Gln17LysfsTer18
Search 100 bp 5'
Search 100 bp 3'