Canonical Allele Identifier: CA1239231096
Gene: POMC HGNC NCBI

Linked Data

dbSNP Id: rs1671476960

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25164148del , CM000664.2:g.25164148del GRCh38
NC_000002.11:g.25387017del , CM000664.1:g.25387017del GRCh37
NC_000002.10:g.25240521del NCBI36
NG_008997.1:g.9543del

Transcript Alleles

HGVS Amino-acid change
ENST00000395826.7:c.132+493del MANE Select ENSP00000379170.2:n.132+493del
ENST00000264708.7:c.132+493del ENSP00000264708.3:n.132+493del
ENST00000380794.5:c.132+493del ENSP00000370171.1:n.132+493del
ENST00000395826.6:c.132+493del ENSP00000379170.2:n.132+493del
ENST00000405623.5:c.132+493del ENSP00000384092.1:n.132+493del
ENST00000449220.1:c.132+493del ENSP00000387993.1:n.132+493del
NM_000939.2:c.132+493del NP_000930.1:n.132+493del
NM_001035256.1:c.132+493del NP_001030333.1:n.132+493del
XM_011532917.1:c.132+493del XP_011531219.1:n.132+493del
NM_000939.3:c.132+493del NP_000930.1:n.132+493del
NM_001035256.2:c.132+493del NP_001030333.1:n.132+493del
NM_001319204.1:c.132+493del NP_001306133.1:n.132+493del
NM_001319205.1:c.132+493del NP_001306134.1:n.132+493del
NM_000939.4:c.132+493del MANE Select NP_000930.1:n.132+493del
NM_001319204.2:c.132+493del NP_001306133.1:n.132+493del
NM_001319205.2:c.132+493del NP_001306134.1:n.132+493del
NM_001035256.3:c.132+493del NP_001030333.1:n.132+493del