Canonical Allele Identifier: CA891862731

Gene: POMC

Linked Data

• ClinVar Variation Id: 591163
• ClinVar RCV Id: RCV000722340
• dbSNP Id: rs1558628620

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161592_25161593insCGCTGCCTC , CM000664.2:g.25161592_25161593insCGCTGCCTC	GRCh38
NC_000002.11:g.25384461_25384462insCGCTGCCTC , CM000664.1:g.25384461_25384462insCGCTGCCTC	GRCh37
NC_000002.10:g.25237965_25237966insCGCTGCCTC	NCBI36
NG_008997.1:g.12099_12100insAGGCAGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.293_294insAGGCAGCGG MANE Select	ENSP00000379170.2:p.Ser98delinsArgGlySerGly
ENST00000264708.7:c.293_294insAGGCAGCGG	ENSP00000264708.3:p.Ser98delinsArgGlySerGly
ENST00000380794.5:c.293_294insAGGCAGCGG	ENSP00000370171.1:p.Ser98delinsArgGlySerGly
ENST00000395826.6:c.293_294insAGGCAGCGG	ENSP00000379170.2:p.Ser98delinsArgGlySerGly
ENST00000405623.5:c.293_294insAGGCAGCGG	ENSP00000384092.1:p.Ser98delinsArgGlySerGly
ENST00000449220.1:c.293_294insAGGCAGCGG	ENSP00000387993.1:p.Ser98delinsArgGlySerGly
NM_000939.2:c.293_294insAGGCAGCGG	NP_000930.1:p.Ser98delinsArgGlySerGly
NM_001035256.1:c.293_294insAGGCAGCGG	NP_001030333.1:p.Ser98delinsArgGlySerGly
XM_011532917.1:c.293_294insAGGCAGCGG	XP_011531219.1:p.Ser98delinsArgGlySerGly
NM_000939.3:c.293_294insAGGCAGCGG	NP_000930.1:p.Ser98delinsArgGlySerGly
NM_001035256.2:c.293_294insAGGCAGCGG	NP_001030333.1:p.Ser98delinsArgGlySerGly
NM_001319204.1:c.293_294insAGGCAGCGG	NP_001306133.1:p.Ser98delinsArgGlySerGly
NM_001319205.1:c.293_294insAGGCAGCGG	NP_001306134.1:p.Ser98delinsArgGlySerGly
NM_000939.4:c.293_294insAGGCAGCGG MANE Select	NP_000930.1:p.Ser98delinsArgGlySerGly
NM_001319204.2:c.293_294insAGGCAGCGG	NP_001306133.1:p.Ser98delinsArgGlySerGly
NM_001319205.2:c.293_294insAGGCAGCGG	NP_001306134.1:p.Ser98delinsArgGlySerGly
NM_001035256.3:c.293_294insAGGCAGCGG	NP_001030333.1:p.Ser98delinsArgGlySerGly