Canonical Allele Identifier: CA2580066133

Gene: POMC

Linked Data

• ClinVar Variation Id: 2122086
• ClinVar RCV Id: RCV003043520

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161601_25161602delinsGG , CM000664.2:g.25161601_25161602delinsGG	GRCh38
NC_000002.11:g.25384470_25384471delinsGG , CM000664.1:g.25384470_25384471delinsGG	GRCh37
NC_000002.10:g.25237974_25237975delinsGG	NCBI36
NG_008997.1:g.12089_12090delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.283_284delinsCC MANE Select	ENSP00000379170.2:p.Ser95Pro
ENST00000264708.7:c.283_284delinsCC	ENSP00000264708.3:p.Ser95Pro
ENST00000380794.5:c.283_284delinsCC	ENSP00000370171.1:p.Ser95Pro
ENST00000395826.6:c.283_284delinsCC	ENSP00000379170.2:p.Ser95Pro
ENST00000405623.5:c.283_284delinsCC	ENSP00000384092.1:p.Ser95Pro
ENST00000449220.1:c.283_284delinsCC	ENSP00000387993.1:p.Ser95Pro
NM_000939.2:c.283_284delinsCC	NP_000930.1:p.Ser95Pro
NM_001035256.1:c.283_284delinsCC	NP_001030333.1:p.Ser95Pro
XM_011532917.1:c.283_284delinsCC	XP_011531219.1:p.Ser95Pro
NM_000939.3:c.283_284delinsCC	NP_000930.1:p.Ser95Pro
NM_001035256.2:c.283_284delinsCC	NP_001030333.1:p.Ser95Pro
NM_001319204.1:c.283_284delinsCC	NP_001306133.1:p.Ser95Pro
NM_001319205.1:c.283_284delinsCC	NP_001306134.1:p.Ser95Pro
NM_000939.4:c.283_284delinsCC MANE Select	NP_000930.1:p.Ser95Pro
NM_001319204.2:c.283_284delinsCC	NP_001306133.1:p.Ser95Pro
NM_001319205.2:c.283_284delinsCC	NP_001306134.1:p.Ser95Pro
NM_001035256.3:c.283_284delinsCC	NP_001030333.1:p.Ser95Pro