Canonical Allele Identifier: CA2658160683

Gene: POMC

Linked Data

• gnomAD v4: 2-25164795-G-GTCTCGGGAGGCTGCTCTCTGAGGGCGGGGACGCTCGGCGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25164795_25164796insTCTCGGGAGGCTGCTCTCTGAGGGCGGGGACGCTCGGCGGCCT , CM000664.2:g.25164795_25164796insTCTCGGGAGGCTGCTCTCTGAGGGCGGGGACGCTCGGCGGCCT	GRCh38
NC_000002.11:g.25387664_25387665insTCTCGGGAGGCTGCTCTCTGAGGGCGGGGACGCTCGGCGGCCT , CM000664.1:g.25387664_25387665insTCTCGGGAGGCTGCTCTCTGAGGGCGGGGACGCTCGGCGGCCT	GRCh37
NC_000002.10:g.25241168_25241169insTCTCGGGAGGCTGCTCTCTGAGGGCGGGGACGCTCGGCGGCCT	NCBI36
NG_008997.1:g.8895_8896insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.-20-4_-20-3insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA MANE Select	ENSP00000379170.2:n.-20-4_-20-3insAGGCCGC...
ENST00000264708.7:c.-24_-23insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	ENSP00000264708.3:n.-24_-23insAGGCCGCCGAG...
ENST00000380794.5:c.-20-4_-20-3insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	ENSP00000370171.1:n.-20-4_-20-3insAGGCCGC...
ENST00000395826.6:c.-20-4_-20-3insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	ENSP00000379170.2:n.-20-4_-20-3insAGGCCGC...
ENST00000405623.5:c.-24_-23insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	ENSP00000384092.1:n.-24_-23insAGGCCGCCGAG...
ENST00000449220.1:c.-20-4_-20-3insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	ENSP00000387993.1:n.-20-4_-20-3insAGGCCGC...
NM_000939.2:c.-20-4_-20-3insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	NP_000930.1:n.-20-4_-20-3insAGGCCGCCGAGCG...
NM_001035256.1:c.-20-4_-20-3insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	NP_001030333.1:n.-20-4_-20-3insAGGCCGCCGA...
XM_011532917.1:c.-24_-23insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	XP_011531219.1:n.-24_-23insAGGCCGCCGAGCGT...
NM_000939.3:c.-20-4_-20-3insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	NP_000930.1:n.-20-4_-20-3insAGGCCGCCGAGCG...
NM_001035256.2:c.-20-4_-20-3insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	NP_001030333.1:n.-20-4_-20-3insAGGCCGCCGA...
NM_001319204.1:c.-24_-23insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	NP_001306133.1:n.-24_-23insAGGCCGCCGAGCGT...
NM_001319205.1:c.-24_-23insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	NP_001306134.1:n.-24_-23insAGGCCGCCGAGCGT...
NM_000939.4:c.-20-4_-20-3insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA MANE Select	NP_000930.1:n.-20-4_-20-3insAGGCCGCCGAGCG...
NM_001319204.2:c.-24_-23insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	NP_001306133.1:n.-24_-23insAGGCCGCCGAGCGT...
NM_001319205.2:c.-24_-23insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	NP_001306134.1:n.-24_-23insAGGCCGCCGAGCGT...
NM_001035256.3:c.-20-4_-20-3insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA	NP_001030333.1:n.-20-4_-20-3insAGGCCGCCGA...