Canonical Allele Identifier: CA2743933
Gene: CRYGS HGNC NCBI

Linked Data

dbSNP Id: rs754108975
ExAC: 3:186257325 GCA / G
gnomAD v2: 3-186257325-GCA-G
gnomAD v3: 3-186539536-GCA-G
gnomAD v4: 3-186539536-GCA-G
MyVariant Identifiers: chr3:g.186257326_186257327del (hg19) chr3:g.186539537_186539538del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539539_186539540del , CM000665.2:g.186539539_186539540del GRCh38
NC_000003.11:g.186257328_186257329del , CM000665.1:g.186257328_186257329del GRCh37
NC_000003.10:g.187740022_187740023del NCBI36
NG_009829.1:g.9841_9842del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307944.6:c.81_82del MANE Select ENSP00000312099.5:p.Ala28ArgfsTer13
ENST00000307944.5:c.81_82del ENSP00000312099.5:p.Ala28ArgfsTer13
ENST00000392499.6:c.81_82del ENSP00000376287.2:p.Ala28ArgfsTer13
ENST00000460288.1:n.983_984del
NM_017541.2:c.81_82del NP_060011.1:p.Ala28ArgfsTer13
NM_017541.3:c.81_82del NP_060011.1:p.Ala28ArgfsTer13
NM_017541.4:c.81_82del MANE Select NP_060011.1:p.Ala28ArgfsTer13
Search 100 bp 5'
Search 100 bp 3'