Canonical Allele Identifier: CA854142380
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs1227588983
gnomAD v3: 8-63039020-GA-G
gnomAD v4: 8-63039020-GA-G
MyVariant Identifiers: chr8:g.63951580del (hg19) chr8:g.63039021del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039021del , CM000670.2:g.63039021del GRCh38
NC_000008.10:g.63951580del , CM000670.1:g.63951580del GRCh37
NC_000008.9:g.64114134del NCBI36
NG_028126.1:g.5031del

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.387del
ENST00000679326.1:c.-253del ENSP00000504262.1:n.-253del
ENST00000260118.6:c.-253del ENSP00000260118.6:n.-253del
NM_003878.2:c.-253del NP_003869.1:n.-253del
XM_011517623.1:c.-253del XP_011515925.1:n.-253del
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