Canonical Allele Identifier: CA178367063
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs971526611
gnomAD v3: 8-63039012-G-GCGACCC
gnomAD v4: 8-63039012-G-GCGACCC
MyVariant Identifiers: chr8:g.63951571_63951572insCGACCC (hg19) chr8:g.63039012_63039013insCGACCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039020_63039025dup , CM000670.2:g.63039020_63039025dup GRCh38
NC_000008.10:g.63951579_63951584dup , CM000670.1:g.63951579_63951584dup GRCh37
NC_000008.9:g.64114133_64114138dup NCBI36
NG_028126.1:g.5034_5039dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.390_395dup
ENST00000679326.1:c.-250_-245dup ENSP00000504262.1:n.-250_-245dup
ENST00000260118.6:c.-250_-245dup ENSP00000260118.6:n.-250_-245dup
NM_003878.2:c.-250_-245dup NP_003869.1:n.-250_-245dup
XM_011517623.1:c.-250_-245dup XP_011515925.1:n.-250_-245dup
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