Canonical Allele Identifier: CA2658163213

Gene: POMC

Linked Data

• gnomAD v4: 2-25161606-G-GCCGCTGCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161607_25161608insCGCTGCTAC , CM000664.2:g.25161607_25161608insCGCTGCTAC	GRCh38
NC_000002.11:g.25384476_25384477insCGCTGCTAC , CM000664.1:g.25384476_25384477insCGCTGCTAC	GRCh37
NC_000002.10:g.25237980_25237981insCGCTGCTAC	NCBI36
NG_008997.1:g.12084_12085insTAGCAGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.278_279insTAGCAGCGG MANE Select	ENSP00000379170.2:p.Ser93_Ser94insSerSerGly
ENST00000264708.7:c.278_279insTAGCAGCGG	ENSP00000264708.3:p.Ser93_Ser94insSerSerGly
ENST00000380794.5:c.278_279insTAGCAGCGG	ENSP00000370171.1:p.Ser93_Ser94insSerSerGly
ENST00000395826.6:c.278_279insTAGCAGCGG	ENSP00000379170.2:p.Ser93_Ser94insSerSerGly
ENST00000405623.5:c.278_279insTAGCAGCGG	ENSP00000384092.1:p.Ser93_Ser94insSerSerGly
ENST00000449220.1:c.278_279insTAGCAGCGG	ENSP00000387993.1:p.Ser93_Ser94insSerSerGly
NM_000939.2:c.278_279insTAGCAGCGG	NP_000930.1:p.Ser93_Ser94insSerSerGly
NM_001035256.1:c.278_279insTAGCAGCGG	NP_001030333.1:p.Ser93_Ser94insSerSerGly
XM_011532917.1:c.278_279insTAGCAGCGG	XP_011531219.1:p.Ser93_Ser94insSerSerGly
NM_000939.3:c.278_279insTAGCAGCGG	NP_000930.1:p.Ser93_Ser94insSerSerGly
NM_001035256.2:c.278_279insTAGCAGCGG	NP_001030333.1:p.Ser93_Ser94insSerSerGly
NM_001319204.1:c.278_279insTAGCAGCGG	NP_001306133.1:p.Ser93_Ser94insSerSerGly
NM_001319205.1:c.278_279insTAGCAGCGG	NP_001306134.1:p.Ser93_Ser94insSerSerGly
NM_000939.4:c.278_279insTAGCAGCGG MANE Select	NP_000930.1:p.Ser93_Ser94insSerSerGly
NM_001319204.2:c.278_279insTAGCAGCGG	NP_001306133.1:p.Ser93_Ser94insSerSerGly
NM_001319205.2:c.278_279insTAGCAGCGG	NP_001306134.1:p.Ser93_Ser94insSerSerGly
NM_001035256.3:c.278_279insTAGCAGCGG	NP_001030333.1:p.Ser93_Ser94insSerSerGly