Canonical Allele Identifier: CA1028505482

Gene: POMC

Linked Data

• dbSNP Id: rs1558628746
• gnomAD v3: 2-25161617-G-GCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT
• gnomAD v4: 2-25161617-G-GCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT , CM000664.2:g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT	GRCh38
NC_000002.11:g.25384486_25384487insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT , CM000664.1:g.25384486_25384487insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT	GRCh37
NC_000002.10:g.25237990_25237991insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT	NCBI36
NG_008997.1:g.12073_12074insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG MANE Select	ENSP00000379170.2:p.Arg90SerfsTer?
ENST00000264708.7:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	ENSP00000264708.3:p.Arg90SerfsTer?
ENST00000380794.5:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	ENSP00000370171.1:p.Arg90SerfsTer?
ENST00000395826.6:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	ENSP00000379170.2:p.Arg90SerfsTer?
ENST00000405623.5:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	ENSP00000384092.1:p.Arg90SerfsTer?
ENST00000449220.1:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	ENSP00000387993.1:p.Arg90SerfsTer?
NM_000939.2:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	NP_000930.1:p.Arg90SerfsTer?
NM_001035256.1:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	NP_001030333.1:p.Arg90SerfsTer?
XM_011532917.1:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	XP_011531219.1:p.Arg90SerfsTer?
NM_000939.3:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	NP_000930.1:p.Arg90SerfsTer?
NM_001035256.2:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	NP_001030333.1:p.Arg90SerfsTer?
NM_001319204.1:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	NP_001306133.1:p.Arg90SerfsTer?
NM_001319205.1:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	NP_001306134.1:p.Arg90SerfsTer?
NM_000939.4:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG MANE Select	NP_000930.1:p.Arg90SerfsTer?
NM_001319204.2:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	NP_001306133.1:p.Arg90SerfsTer?
NM_001319205.2:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	NP_001306134.1:p.Arg90SerfsTer?
NM_001035256.3:c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG	NP_001030333.1:p.Arg90SerfsTer?