Canonical Allele Identifier: CA2706533
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs754896970
ExAC: 3:172166094 AGCT / A
gnomAD v2: 3-172166094-AGCT-A
gnomAD v3: 3-172448304-AGCT-A
gnomAD v4: 3-172448304-AGCT-A
MyVariant Identifiers: chr3:g.172166095_172166097del (hg19) chr3:g.172448305_172448307del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448307_172448309del , CM000665.2:g.172448307_172448309del GRCh38
NC_000003.11:g.172166097_172166099del , CM000665.1:g.172166097_172166099del GRCh37
NC_000003.10:g.173648791_173648793del NCBI36
NG_021159.1:g.5150_5152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.107_109del MANE Select ENSP00000241256.2:p.Gln36del
ENST00000241256.2:c.107_109del ENSP00000241256.2:p.Gln36del
ENST00000427970.1:c.107_109del ENSP00000395344.1:p.Gln36del
NM_004122.2:c.107_109del NP_004113.1:p.Gln36del
NM_198407.2:c.107_109del MANE Select NP_940799.1:p.Gln36del
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