Canonical Allele Identifier: CA767151805

Gene: POMC

Linked Data

• dbSNP Id: rs1479298924
• gnomAD v3: 2-25167074-C-CAACACAATGA
• gnomAD v4: 2-25167074-C-CAACACAATGA
• MyVariant Identifiers: chr2:g.25389943_25389944insAACACAATGA (hg19) ; chr2:g.25167074_25167075insAACACAATGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25167074_25167075insAACACAATGA , CM000664.2:g.25167074_25167075insAACACAATGA	GRCh38
NC_000002.11:g.25389943_25389944insAACACAATGA , CM000664.1:g.25389943_25389944insAACACAATGA	GRCh37
NC_000002.10:g.25243447_25243448insAACACAATGA	NCBI36
NG_008997.1:g.6616_6617insTCATTGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.-21+1423_-21+1424insTCATTGTGTT MANE Select	ENSP00000379170.2:n.-21+1423_-21+1424insTCATTGTGTT
ENST00000264708.7:c.-100-1390_-100-1389insTCATTGTGTT	ENSP00000264708.3:n.-100-1390_-100-1389insTCATTGTGTT
ENST00000380794.5:c.-70-1390_-70-1389insTCATTGTGTT	ENSP00000370171.1:n.-70-1390_-70-1389insTCATTGTGTT
ENST00000395826.6:c.-21+1423_-21+1424insTCATTGTGTT	ENSP00000379170.2:n.-21+1423_-21+1424insTCATTGTGTT
ENST00000405623.5:c.-51+1423_-51+1424insTCATTGTGTT	ENSP00000384092.1:n.-51+1423_-51+1424insTCATTGTGTT
ENST00000449220.1:c.-70-1390_-70-1389insTCATTGTGTT	ENSP00000387993.1:n.-70-1390_-70-1389insTCATTGTGTT
NM_000939.2:c.-21+1423_-21+1424insTCATTGTGTT	NP_000930.1:n.-21+1423_-21+1424insTCATTGTGTT
NM_001035256.1:c.-70-1390_-70-1389insTCATTGTGTT	NP_001030333.1:n.-70-1390_-70-1389insTCATTGTGTT
XM_011532917.1:c.-51+1423_-51+1424insTCATTGTGTT	XP_011531219.1:n.-51+1423_-51+1424insTCATTGTGTT
NM_000939.3:c.-21+1423_-21+1424insTCATTGTGTT	NP_000930.1:n.-21+1423_-21+1424insTCATTGTGTT
NM_001035256.2:c.-70-1390_-70-1389insTCATTGTGTT	NP_001030333.1:n.-70-1390_-70-1389insTCATTGTGTT
NM_001319204.1:c.-100-1390_-100-1389insTCATTGTGTT	NP_001306133.1:n.-100-1390_-100-1389insTCATTGTGTT
NM_001319205.1:c.-51+1423_-51+1424insTCATTGTGTT	NP_001306134.1:n.-51+1423_-51+1424insTCATTGTGTT
NM_000939.4:c.-21+1423_-21+1424insTCATTGTGTT MANE Select	NP_000930.1:n.-21+1423_-21+1424insTCATTGTGTT
NM_001319204.2:c.-100-1390_-100-1389insTCATTGTGTT	NP_001306133.1:n.-100-1390_-100-1389insTCATTGTGTT
NM_001319205.2:c.-51+1423_-51+1424insTCATTGTGTT	NP_001306134.1:n.-51+1423_-51+1424insTCATTGTGTT
NM_001035256.3:c.-70-1390_-70-1389insTCATTGTGTT	NP_001030333.1:n.-70-1390_-70-1389insTCATTGTGTT