Canonical Allele Identifier: CA767151262
Gene: POMC HGNC NCBI

Linked Data

dbSNP Id: rs1453736166

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25164734dup , CM000664.2:g.25164734dup GRCh38
NC_000002.11:g.25387603dup , CM000664.1:g.25387603dup GRCh37
NC_000002.10:g.25241107dup NCBI36
NG_008997.1:g.8957dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395826.7:c.39dup MANE Select ENSP00000379170.2:p.Leu14AlafsTer?
ENST00000264708.7:c.39dup ENSP00000264708.3:p.Leu14AlafsTer?
ENST00000380794.5:c.39dup ENSP00000370171.1:p.Leu14AlafsTer?
ENST00000395826.6:c.39dup ENSP00000379170.2:p.Leu14AlafsTer?
ENST00000405623.5:c.39dup ENSP00000384092.1:p.Leu14AlafsTer?
ENST00000449220.1:c.39dup ENSP00000387993.1:p.Leu14AlafsTer?
NM_000939.2:c.39dup NP_000930.1:p.Leu14AlafsTer?
NM_001035256.1:c.39dup NP_001030333.1:p.Leu14AlafsTer?
XM_011532917.1:c.39dup XP_011531219.1:p.Leu14AlafsTer?
NM_000939.3:c.39dup NP_000930.1:p.Leu14AlafsTer?
NM_001035256.2:c.39dup NP_001030333.1:p.Leu14AlafsTer?
NM_001319204.1:c.39dup NP_001306133.1:p.Leu14AlafsTer?
NM_001319205.1:c.39dup NP_001306134.1:p.Leu14AlafsTer?
NM_000939.4:c.39dup MANE Select NP_000930.1:p.Leu14AlafsTer?
NM_001319204.2:c.39dup NP_001306133.1:p.Leu14AlafsTer?
NM_001319205.2:c.39dup NP_001306134.1:p.Leu14AlafsTer?
NM_001035256.3:c.39dup NP_001030333.1:p.Leu14AlafsTer?