Canonical Allele Identifier: CA2658163216

Gene: POMC

Linked Data

• gnomAD v4: 2-25161608-T-TGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161612_25161613insCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG , CM000664.2:g.25161612_25161613insCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG	GRCh38
NC_000002.11:g.25384481_25384482insCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG , CM000664.1:g.25384481_25384482insCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG	GRCh37
NC_000002.10:g.25237985_25237986insCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG	NCBI36
NG_008997.1:g.12082_12083insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC MANE Select	ENSP00000379170.2:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSer...
ENST00000264708.7:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	ENSP00000264708.3:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSer...
ENST00000380794.5:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	ENSP00000370171.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSer...
ENST00000395826.6:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	ENSP00000379170.2:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSer...
ENST00000405623.5:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	ENSP00000384092.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSer...
ENST00000449220.1:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	ENSP00000387993.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSer...
NM_000939.2:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	NP_000930.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGlySer...
NM_001035256.1:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	NP_001030333.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGly...
XM_011532917.1:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	XP_011531219.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGly...
NM_000939.3:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	NP_000930.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGlySer...
NM_001035256.2:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	NP_001030333.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGly...
NM_001319204.1:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	NP_001306133.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGly...
NM_001319205.1:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	NP_001306134.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGly...
NM_000939.4:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC MANE Select	NP_000930.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGlySer...
NM_001319204.2:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	NP_001306133.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGly...
NM_001319205.2:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	NP_001306134.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGly...
NM_001035256.3:c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC	NP_001030333.1:p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGly...