Canonical Allele Identifier: CA721212578
Gene:

Linked Data

dbSNP Id: rs1241896123
gnomAD v3: 16-49108715-ACACT-A
gnomAD v4: 16-49108715-ACACT-A
MyVariant Identifiers: chr16:g.49142627_49142630del (hg19) chr16:g.49108716_49108719del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108719_49108722del , CM000678.2:g.49108719_49108722del GRCh38
NC_000016.9:g.49142630_49142633del , CM000678.1:g.49142630_49142633del GRCh37
NC_000016.8:g.47700131_47700134del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1225_810+1228del
XR_001752138.2:n.591+5257_591+5260del
XR_933517.2:n.810+1225_810+1228del
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