Canonical Allele Identifier: CA1028505456

Gene: POMC

Linked Data

• dbSNP Id: rs1671381733
• gnomAD v3: 2-25161609-G-GCCGCTGCTGCTC
• gnomAD v4: 2-25161609-G-GCCGCTGCTGCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161610_25161611insCGCTGCTGCTCC , CM000664.2:g.25161610_25161611insCGCTGCTGCTCC	GRCh38
NC_000002.11:g.25384479_25384480insCGCTGCTGCTCC , CM000664.1:g.25384479_25384480insCGCTGCTGCTCC	GRCh37
NC_000002.10:g.25237983_25237984insCGCTGCTGCTCC	NCBI36
NG_008997.1:g.12081_12082insGAGCAGCAGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.275_276insGAGCAGCAGCGG MANE Select	ENSP00000379170.2:p.Ser92delinsArgSerSerSerGly
ENST00000264708.7:c.275_276insGAGCAGCAGCGG	ENSP00000264708.3:p.Ser92delinsArgSerSerSerGly
ENST00000380794.5:c.275_276insGAGCAGCAGCGG	ENSP00000370171.1:p.Ser92delinsArgSerSerSerGly
ENST00000395826.6:c.275_276insGAGCAGCAGCGG	ENSP00000379170.2:p.Ser92delinsArgSerSerSerGly
ENST00000405623.5:c.275_276insGAGCAGCAGCGG	ENSP00000384092.1:p.Ser92delinsArgSerSerSerGly
ENST00000449220.1:c.275_276insGAGCAGCAGCGG	ENSP00000387993.1:p.Ser92delinsArgSerSerSerGly
NM_000939.2:c.275_276insGAGCAGCAGCGG	NP_000930.1:p.Ser92delinsArgSerSerSerGly
NM_001035256.1:c.275_276insGAGCAGCAGCGG	NP_001030333.1:p.Ser92delinsArgSerSerSerGly
XM_011532917.1:c.275_276insGAGCAGCAGCGG	XP_011531219.1:p.Ser92delinsArgSerSerSerGly
NM_000939.3:c.275_276insGAGCAGCAGCGG	NP_000930.1:p.Ser92delinsArgSerSerSerGly
NM_001035256.2:c.275_276insGAGCAGCAGCGG	NP_001030333.1:p.Ser92delinsArgSerSerSerGly
NM_001319204.1:c.275_276insGAGCAGCAGCGG	NP_001306133.1:p.Ser92delinsArgSerSerSerGly
NM_001319205.1:c.275_276insGAGCAGCAGCGG	NP_001306134.1:p.Ser92delinsArgSerSerSerGly
NM_000939.4:c.275_276insGAGCAGCAGCGG MANE Select	NP_000930.1:p.Ser92delinsArgSerSerSerGly
NM_001319204.2:c.275_276insGAGCAGCAGCGG	NP_001306133.1:p.Ser92delinsArgSerSerSerGly
NM_001319205.2:c.275_276insGAGCAGCAGCGG	NP_001306134.1:p.Ser92delinsArgSerSerSerGly
NM_001035256.3:c.275_276insGAGCAGCAGCGG	NP_001030333.1:p.Ser92delinsArgSerSerSerGly