Canonical Allele Identifier: CA581992822
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs1377522072
gnomAD v2: 8-63951554-G-GTTCCGC
gnomAD v3: 8-63038995-G-GTTCCGC
gnomAD v4: 8-63038995-G-GTTCCGC
MyVariant Identifiers: chr8:g.63951554_63951555insTTCCGC (hg19) chr8:g.63038995_63038996insTTCCGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038995_63038996insTTCCGC , CM000670.2:g.63038995_63038996insTTCCGC GRCh38
NC_000008.10:g.63951554_63951555insTTCCGC , CM000670.1:g.63951554_63951555insTTCCGC GRCh37
NC_000008.9:g.64114108_64114109insTTCCGC NCBI36
NG_028126.1:g.5056_5057insGCGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.412_413insGCGGAA
ENST00000679326.1:c.-228_-227insGCGGAA ENSP00000504262.1:n.-228_-227insGCGGAA
ENST00000260118.6:c.-228_-227insGCGGAA ENSP00000260118.6:n.-228_-227insGCGGAA
NM_003878.2:c.-228_-227insGCGGAA NP_003869.1:n.-228_-227insGCGGAA
XM_011517623.1:c.-228_-227insGCGGAA XP_011515925.1:n.-228_-227insGCGGAA
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