Canonical Allele Identifier: CA2586968732

Gene: POMC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161485_25161486insCC , CM000664.2:g.25161485_25161486insCC	GRCh38
NC_000002.11:g.25384354_25384355insCC , CM000664.1:g.25384354_25384355insCC	GRCh37
NC_000002.10:g.25237858_25237859insCC	NCBI36
NG_008997.1:g.12206_12207insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.400_401insGG MANE Select	ENSP00000379170.2:p.Glu134GlyfsTer25
ENST00000264708.7:c.400_401insGG	ENSP00000264708.3:p.Glu134GlyfsTer25
ENST00000380794.5:c.400_401insGG	ENSP00000370171.1:p.Glu134GlyfsTer25
ENST00000395826.6:c.400_401insGG	ENSP00000379170.2:p.Glu134GlyfsTer25
ENST00000405623.5:c.400_401insGG	ENSP00000384092.1:p.Glu134GlyfsTer25
ENST00000449220.1:c.400_401insGG	ENSP00000387993.1:p.Glu134GlyfsTer25
NM_000939.2:c.400_401insGG	NP_000930.1:p.Glu134GlyfsTer25
NM_001035256.1:c.400_401insGG	NP_001030333.1:p.Glu134GlyfsTer25
XM_011532917.1:c.400_401insGG	XP_011531219.1:p.Glu134GlyfsTer25
NM_000939.3:c.400_401insGG	NP_000930.1:p.Glu134GlyfsTer25
NM_001035256.2:c.400_401insGG	NP_001030333.1:p.Glu134GlyfsTer25
NM_001319204.1:c.400_401insGG	NP_001306133.1:p.Glu134GlyfsTer25
NM_001319205.1:c.400_401insGG	NP_001306134.1:p.Glu134GlyfsTer25
NM_000939.4:c.400_401insGG MANE Select	NP_000930.1:p.Glu134GlyfsTer25
NM_001319204.2:c.400_401insGG	NP_001306133.1:p.Glu134GlyfsTer25
NM_001319205.2:c.400_401insGG	NP_001306134.1:p.Glu134GlyfsTer25
NM_001035256.3:c.400_401insGG	NP_001030333.1:p.Glu134GlyfsTer25