Canonical Allele Identifier: CA1028505423

Gene: POMC

Linked Data

• gnomAD v3: 2-25161599-C-CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCT
• gnomAD v4: 2-25161599-C-CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCTGCTGCTGC , CM000664.2:g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCTGCTGCTGC	GRCh38
NC_000002.11:g.25384476_25384477insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCTGCTGCTGC , CM000664.1:g.25384476_25384477insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCTGCTGCTGC	GRCh37
NC_000002.10:g.25237980_25237981insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCTGCTGCTGC	NCBI36
NG_008997.1:g.12091_12092insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC MANE Select	ENSP00000379170.2:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer...
ENST00000264708.7:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	ENSP00000264708.3:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer...
ENST00000380794.5:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	ENSP00000370171.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer...
ENST00000395826.6:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	ENSP00000379170.2:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer...
ENST00000405623.5:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	ENSP00000384092.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer...
ENST00000449220.1:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	ENSP00000387993.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer...
NM_000939.2:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	NP_000930.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGlySer...
NM_001035256.1:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	NP_001030333.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGly...
XM_011532917.1:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	XP_011531219.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGly...
NM_000939.3:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	NP_000930.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGlySer...
NM_001035256.2:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	NP_001030333.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGly...
NM_001319204.1:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	NP_001306133.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGly...
NM_001319205.1:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	NP_001306134.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGly...
NM_000939.4:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC MANE Select	NP_000930.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGlySer...
NM_001319204.2:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	NP_001306133.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGly...
NM_001319205.2:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	NP_001306134.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGly...
NM_001035256.3:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC	NP_001030333.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGly...