Canonical Allele Identifier: CA626846499
Gene:

Linked Data

dbSNP Id: rs1479455215
gnomAD v2: 17-61575767-CT-C
gnomAD v3: 17-63498406-CT-C
gnomAD v4: 17-63498406-CT-C
MyVariant Identifiers: chr17:g.61575768del (hg19) chr17:g.63498407del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63498408del , CM000679.2:g.63498408del GRCh38
NC_000017.10:g.61575769del , CM000679.1:g.61575769del GRCh37
NC_000017.9:g.58929501del NCBI36
NG_011648.1:g.26336del

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1969+1423del ENSP00000464149.1:n.1969+1423del
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