Canonical Allele Identifier: CA531358426

Gene: POMC

Linked Data

• dbSNP Id: rs1558628708
• gnomAD v2: 2-25384477-T-TGCTGCC
• gnomAD v3: 2-25161608-T-TGCTGCC
• gnomAD v4: 2-25161608-T-TGCTGCC
• MyVariant Identifiers: chr2:g.25384477_25384478insGCTGCC (hg19) ; chr2:g.25161608_25161609insGCTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161612_25161613insCCGCTG , CM000664.2:g.25161612_25161613insCCGCTG	GRCh38
NC_000002.11:g.25384481_25384482insCCGCTG , CM000664.1:g.25384481_25384482insCCGCTG	GRCh37
NC_000002.10:g.25237985_25237986insCCGCTG	NCBI36
NG_008997.1:g.12082_12083insGGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.276_277insGGCAGC MANE Select	ENSP00000379170.2:p.Ser92_Ser93insGlySer
ENST00000264708.7:c.276_277insGGCAGC	ENSP00000264708.3:p.Ser92_Ser93insGlySer
ENST00000380794.5:c.276_277insGGCAGC	ENSP00000370171.1:p.Ser92_Ser93insGlySer
ENST00000395826.6:c.276_277insGGCAGC	ENSP00000379170.2:p.Ser92_Ser93insGlySer
ENST00000405623.5:c.276_277insGGCAGC	ENSP00000384092.1:p.Ser92_Ser93insGlySer
ENST00000449220.1:c.276_277insGGCAGC	ENSP00000387993.1:p.Ser92_Ser93insGlySer
NM_000939.2:c.276_277insGGCAGC	NP_000930.1:p.Ser92_Ser93insGlySer
NM_001035256.1:c.276_277insGGCAGC	NP_001030333.1:p.Ser92_Ser93insGlySer
XM_011532917.1:c.276_277insGGCAGC	XP_011531219.1:p.Ser92_Ser93insGlySer
NM_000939.3:c.276_277insGGCAGC	NP_000930.1:p.Ser92_Ser93insGlySer
NM_001035256.2:c.276_277insGGCAGC	NP_001030333.1:p.Ser92_Ser93insGlySer
NM_001319204.1:c.276_277insGGCAGC	NP_001306133.1:p.Ser92_Ser93insGlySer
NM_001319205.1:c.276_277insGGCAGC	NP_001306134.1:p.Ser92_Ser93insGlySer
NM_000939.4:c.276_277insGGCAGC MANE Select	NP_000930.1:p.Ser92_Ser93insGlySer
NM_001319204.2:c.276_277insGGCAGC	NP_001306133.1:p.Ser92_Ser93insGlySer
NM_001319205.2:c.276_277insGGCAGC	NP_001306134.1:p.Ser92_Ser93insGlySer
NM_001035256.3:c.276_277insGGCAGC	NP_001030333.1:p.Ser92_Ser93insGlySer