Canonical Allele Identifier: CA2658163238
Gene: POMC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25161744del , CM000664.2:g.25161744del GRCh38
NC_000002.11:g.25384613del , CM000664.1:g.25384613del GRCh37
NC_000002.10:g.25238117del NCBI36
NG_008997.1:g.11948del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395826.7:c.142del MANE Select ENSP00000379170.2:p.Arg48GlyfsTer23
ENST00000264708.7:c.142del ENSP00000264708.3:p.Arg48GlyfsTer23
ENST00000380794.5:c.142del ENSP00000370171.1:p.Arg48GlyfsTer23
ENST00000395826.6:c.142del ENSP00000379170.2:p.Arg48GlyfsTer23
ENST00000405623.5:c.142del ENSP00000384092.1:p.Arg48GlyfsTer23
ENST00000449220.1:c.142del ENSP00000387993.1:p.Arg48GlyfsTer23
NM_000939.2:c.142del NP_000930.1:p.Arg48GlyfsTer23
NM_001035256.1:c.142del NP_001030333.1:p.Arg48GlyfsTer23
XM_011532917.1:c.142del XP_011531219.1:p.Arg48GlyfsTer23
NM_000939.3:c.142del NP_000930.1:p.Arg48GlyfsTer23
NM_001035256.2:c.142del NP_001030333.1:p.Arg48GlyfsTer23
NM_001319204.1:c.142del NP_001306133.1:p.Arg48GlyfsTer23
NM_001319205.1:c.142del NP_001306134.1:p.Arg48GlyfsTer23
NM_000939.4:c.142del MANE Select NP_000930.1:p.Arg48GlyfsTer23
NM_001319204.2:c.142del NP_001306133.1:p.Arg48GlyfsTer23
NM_001319205.2:c.142del NP_001306134.1:p.Arg48GlyfsTer23
NM_001035256.3:c.142del NP_001030333.1:p.Arg48GlyfsTer23