Canonical Allele Identifier: CA1239228001

Gene: POMC

Linked Data

• dbSNP Id: rs1671377124
• gnomAD v4: 2-25161588-G-GCCGCTGCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161596_25161597insACCGCTGCT , CM000664.2:g.25161596_25161597insACCGCTGCT	GRCh38
NC_000002.11:g.25384465_25384466insACCGCTGCT , CM000664.1:g.25384465_25384466insACCGCTGCT	GRCh37
NC_000002.10:g.25237969_25237970insACCGCTGCT	NCBI36
NG_008997.1:g.12102_12103insTAGCAGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.296_297insTAGCAGCGG MANE Select	ENSP00000379170.2:p.Gly99_Ala100insSerSerGly
ENST00000264708.7:c.296_297insTAGCAGCGG	ENSP00000264708.3:p.Gly99_Ala100insSerSerGly
ENST00000380794.5:c.296_297insTAGCAGCGG	ENSP00000370171.1:p.Gly99_Ala100insSerSerGly
ENST00000395826.6:c.296_297insTAGCAGCGG	ENSP00000379170.2:p.Gly99_Ala100insSerSerGly
ENST00000405623.5:c.296_297insTAGCAGCGG	ENSP00000384092.1:p.Gly99_Ala100insSerSerGly
ENST00000449220.1:c.296_297insTAGCAGCGG	ENSP00000387993.1:p.Gly99_Ala100insSerSerGly
NM_000939.2:c.296_297insTAGCAGCGG	NP_000930.1:p.Gly99_Ala100insSerSerGly
NM_001035256.1:c.296_297insTAGCAGCGG	NP_001030333.1:p.Gly99_Ala100insSerSerGly
XM_011532917.1:c.296_297insTAGCAGCGG	XP_011531219.1:p.Gly99_Ala100insSerSerGly
NM_000939.3:c.296_297insTAGCAGCGG	NP_000930.1:p.Gly99_Ala100insSerSerGly
NM_001035256.2:c.296_297insTAGCAGCGG	NP_001030333.1:p.Gly99_Ala100insSerSerGly
NM_001319204.1:c.296_297insTAGCAGCGG	NP_001306133.1:p.Gly99_Ala100insSerSerGly
NM_001319205.1:c.296_297insTAGCAGCGG	NP_001306134.1:p.Gly99_Ala100insSerSerGly
NM_000939.4:c.296_297insTAGCAGCGG MANE Select	NP_000930.1:p.Gly99_Ala100insSerSerGly
NM_001319204.2:c.296_297insTAGCAGCGG	NP_001306133.1:p.Gly99_Ala100insSerSerGly
NM_001319205.2:c.296_297insTAGCAGCGG	NP_001306134.1:p.Gly99_Ala100insSerSerGly
NM_001035256.3:c.296_297insTAGCAGCGG	NP_001030333.1:p.Gly99_Ala100insSerSerGly