Canonical Allele Identifier: CA2699006668
Gene: POMC HGNC NCBI

Linked Data

dbSNP Id: rs2149219337

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25161286_25161287insGGGCAC , CM000664.2:g.25161286_25161287insGGGCAC GRCh38
NC_000002.11:g.25384155_25384156insGGGCAC , CM000664.1:g.25384155_25384156insGGGCAC GRCh37
NC_000002.10:g.25237659_25237660insGGGCAC NCBI36
NG_008997.1:g.12405_12406insTGCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000395826.7:c.599_600insTGCCCG MANE Select ENSP00000379170.2:p.Gly200_Ala201insAlaArg
ENST00000264708.7:c.599_600insTGCCCG ENSP00000264708.3:p.Gly200_Ala201insAlaArg
ENST00000380794.5:c.599_600insTGCCCG ENSP00000370171.1:p.Gly200_Ala201insAlaArg
ENST00000395826.6:c.599_600insTGCCCG ENSP00000379170.2:p.Gly200_Ala201insAlaArg
ENST00000405623.5:c.599_600insTGCCCG ENSP00000384092.1:p.Gly200_Ala201insAlaArg
ENST00000449220.1:c.599_600insTGCCCG ENSP00000387993.1:p.Gly200_Ala201insAlaArg
NM_000939.2:c.599_600insTGCCCG NP_000930.1:p.Gly200_Ala201insAlaArg
NM_001035256.1:c.599_600insTGCCCG NP_001030333.1:p.Gly200_Ala201insAlaArg
XM_011532917.1:c.599_600insTGCCCG XP_011531219.1:p.Gly200_Ala201insAlaArg
NM_000939.3:c.599_600insTGCCCG NP_000930.1:p.Gly200_Ala201insAlaArg
NM_001035256.2:c.599_600insTGCCCG NP_001030333.1:p.Gly200_Ala201insAlaArg
NM_001319204.1:c.599_600insTGCCCG NP_001306133.1:p.Gly200_Ala201insAlaArg
NM_001319205.1:c.599_600insTGCCCG NP_001306134.1:p.Gly200_Ala201insAlaArg
NM_000939.4:c.599_600insTGCCCG MANE Select NP_000930.1:p.Gly200_Ala201insAlaArg
NM_001319204.2:c.599_600insTGCCCG NP_001306133.1:p.Gly200_Ala201insAlaArg
NM_001319205.2:c.599_600insTGCCCG NP_001306134.1:p.Gly200_Ala201insAlaArg
NM_001035256.3:c.599_600insTGCCCG NP_001030333.1:p.Gly200_Ala201insAlaArg