Canonical Allele Identifier: CA178367050
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs536747486
gnomAD v2: 8-63951556-T-TCCGCGA
gnomAD v3: 8-63038997-T-TCCGCGA
gnomAD v4: 8-63038997-T-TCCGCGA
MyVariant Identifiers: chr8:g.63951562_63951563insCCGCGA (hg19) chr8:g.63951556_63951557insCCGCGA (hg19) chr8:g.63039003_63039004insCCGCGA (hg38) chr8:g.63038997_63038998insCCGCGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039012_63039017dup , CM000670.2:g.63039012_63039017dup GRCh38
NC_000008.10:g.63951571_63951576dup , CM000670.1:g.63951571_63951576dup GRCh37
NC_000008.9:g.64114125_64114130dup NCBI36
NG_028126.1:g.5049_5054dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.405_410dup
ENST00000679326.1:c.-235_-230dup ENSP00000504262.1:n.-235_-230dup
ENST00000260118.6:c.-235_-230dup ENSP00000260118.6:n.-235_-230dup
NM_003878.2:c.-235_-230dup NP_003869.1:n.-235_-230dup
XM_011517623.1:c.-235_-230dup XP_011515925.1:n.-235_-230dup
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