Canonical Allele Identifier: CA539389073
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs1465098431
gnomAD v2: 2-208988944-CT-C
gnomAD v4: 2-208124220-CT-C
MyVariant Identifiers: chr2:g.208988945del (hg19) chr2:g.208124221del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124221del , CM000664.2:g.208124221del GRCh38
NC_000002.11:g.208988945del , CM000664.1:g.208988945del GRCh37
NC_000002.10:g.208697190del NCBI36
NG_008039.1:g.5369del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.143del MANE Select ENSP00000264376.4:p.Gln48ArgfsTer?
ENST00000264376.4:c.143del ENSP00000264376.4:p.Gln48ArgfsTer?
NM_006891.3:c.143del NP_008822.2:p.Gln48ArgfsTer?
NR_038437.1:n.97+4996del
NM_006891.4:c.143del MANE Select NP_008822.2:p.Gln48ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'