Canonical Allele Identifier: CA2586297866
Gene: LHB HGNC NCBI

Linked Data

gnomAD v4: 19-49016127-GACCCCC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49016130_49016135del , CM000681.2:g.49016130_49016135del GRCh38
NC_000019.9:g.49519387_49519392del , CM000681.1:g.49519387_49519392del GRCh37
NC_000019.8:g.54211199_54211204del NCBI36
NG_011464.1:g.5958_5963del
NG_033041.1:g.27232_27237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649238.3:c.361_366del MANE Select ENSP00000497294.2:p.Gly121_Gly122del
ENST00000649284.1:n.452_457del
ENST00000221421.6:c.361_366del ENSP00000221421.1:p.Gly121_Gly122del
ENST00000391869.4:c.355_360del ENSP00000375742.4:p.Gly119_Gly120del
NM_000894.2:c.361_366del NP_000885.1:p.Gly121_Gly122del
XM_011526975.1:c.409_414del XP_011525277.1:p.Gly137_Gly138del
NM_000894.3:c.361_366del MANE Select NP_000885.1:p.Gly121_Gly122del
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Search 100 bp 3'