Canonical Allele Identifier: CA129877
Gene: HTR1A HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.63962199del
GRCh37 chr5:g.63258026del
gnomAD v2:
5:63258025 CT / C
gnomAD v3:
5:63962198 CT / C
gnomAD v4:
chr5-63962198-CT-C
Joint Max Group AF 0.00614473 (EAS)
Genomes Max Group AF 0.00641027 (EAS)
Exomes Max Group AF 0.00432629 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.63962200del , CM000667.2:g.63962200del GRCh38
NC_000005.9:g.63258027del , CM000667.1:g.63258027del GRCh37
NC_000005.8:g.63293783del NCBI36
NG_032816.1:g.5094del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323865.5:c.-480del MANE Select ENSP00000316244.4:n.-480del
ENST00000506598.1:c.-387-93del ENSP00000423433.1:n.-387-93del
NM_000524.3:c.-480del NP_000515.2:n.-480del
NM_000524.4:c.-480del MANE Select NP_000515.2:n.-480del
Search 100 bp 5'
Search 100 bp 3'