Canonical Allele Identifier: CA2759408655
Gene: GHSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447929_172447930insAACACACCAAACACACCCAACACA , CM000665.2:g.172447929_172447930insAACACACCAAACACACCCAACACA GRCh38
NC_000003.11:g.172165719_172165720insAACACACCAAACACACCCAACACA , CM000665.1:g.172165719_172165720insAACACACCAAACACACCCAACACA GRCh37
NC_000003.10:g.173648413_173648414insAACACACCAAACACACCCAACACA NCBI36
NG_021159.1:g.5529_5530insTGTTGGGTGTGTTTGGTGTGTTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.486_487insTGTTGGGTGTGTTTGGTGTGTTTG MANE Select ENSP00000241256.2:p.Leu162_Val163insCysTrpValCysLeuValCysLeu
ENST00000241256.2:c.486_487insTGTTGGGTGTGTTTGGTGTGTTTG ENSP00000241256.2:p.Leu162_Val163insCysTrpValCysLeuValCysLeu
ENST00000427970.1:c.486_487insTGTTGGGTGTGTTTGGTGTGTTTG ENSP00000395344.1:p.Leu162_Val163insCysTrpValCysLeuValCysLeu
NM_004122.2:c.486_487insTGTTGGGTGTGTTTGGTGTGTTTG NP_004113.1:p.Leu162_Val163insCysTrpValCysLeuValCysLeu
NM_198407.2:c.486_487insTGTTGGGTGTGTTTGGTGTGTTTG MANE Select NP_940799.1:p.Leu162_Val163insCysTrpValCysLeuValCysLeu