Canonical Allele Identifier: CA1788923564
Gene: GGH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039020_63039021delinsGA , CM000670.2:g.63039020_63039021delinsGA GRCh38
NC_000008.10:g.63951579_63951580delinsGA , CM000670.1:g.63951579_63951580delinsGA GRCh37
NC_000008.9:g.64114133_64114134delinsGA NCBI36
NG_028126.1:g.5031_5032delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.387_388delinsTC
ENST00000679326.1:c.-253_-252delinsTC ENSP00000504262.1:n.-253_-252delinsTC
ENST00000260118.6:c.-253_-252delinsTC ENSP00000260118.6:n.-253_-252delinsTC
NM_003878.2:c.-253_-252delinsTC NP_003869.1:n.-253_-252delinsTC
XM_011517623.1:c.-253_-252delinsTC XP_011515925.1:n.-253_-252delinsTC