Canonical Allele Identifier: CA2658163222

Gene: POMC

Linked Data

• gnomAD v4: 2-25161619-C-CTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT , CM000664.2:g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT	GRCh38
NC_000002.11:g.25384488_25384489insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT , CM000664.1:g.25384488_25384489insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT	GRCh37
NC_000002.10:g.25237992_25237993insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT	NCBI36
NG_008997.1:g.12071_12072insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA MANE Select	ENSP00000379170.2:p.Arg89GlnfsTer42
ENST00000264708.7:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	ENSP00000264708.3:p.Arg89GlnfsTer42
ENST00000380794.5:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	ENSP00000370171.1:p.Arg89GlnfsTer42
ENST00000395826.6:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	ENSP00000379170.2:p.Arg89GlnfsTer42
ENST00000405623.5:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	ENSP00000384092.1:p.Arg89GlnfsTer42
ENST00000449220.1:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	ENSP00000387993.1:p.Arg89GlnfsTer42
NM_000939.2:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	NP_000930.1:p.Arg89GlnfsTer42
NM_001035256.1:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	NP_001030333.1:p.Arg89GlnfsTer42
XM_011532917.1:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	XP_011531219.1:p.Arg89GlnfsTer42
NM_000939.3:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	NP_000930.1:p.Arg89GlnfsTer42
NM_001035256.2:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	NP_001030333.1:p.Arg89GlnfsTer42
NM_001319204.1:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	NP_001306133.1:p.Arg89GlnfsTer42
NM_001319205.1:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	NP_001306134.1:p.Arg89GlnfsTer42
NM_000939.4:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA MANE Select	NP_000930.1:p.Arg89GlnfsTer42
NM_001319204.2:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	NP_001306133.1:p.Arg89GlnfsTer42
NM_001319205.2:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	NP_001306134.1:p.Arg89GlnfsTer42
NM_001035256.3:c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA	NP_001030333.1:p.Arg89GlnfsTer42