Canonical Allele Identifier: CA556731638
Gene: HAFML HGNC NCBI

Linked Data

dbSNP Id: rs1163826957
gnomAD v2: 4-177587624-CCAAACAG-C
gnomAD v3: 4-176666473-CCAAACAG-C
gnomAD v4: 4-176666473-CCAAACAG-C
MyVariant Identifiers: chr4:g.177587625_177587631del (hg19) chr4:g.176666474_176666480del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.176666475_176666481del , CM000666.2:g.176666475_176666481del GRCh38
NC_000004.11:g.177587626_177587632del , CM000666.1:g.177587626_177587632del GRCh37
NC_000004.10:g.177824620_177824626del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939498.1:n.121-3146_121-3140del
XR_939499.1:n.121-3146_121-3140del
XR_939498.2:n.208-3146_208-3140del
XR_939499.2:n.204-3146_204-3140del
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