Canonical Allele Identifier: CA2658163187

Gene: POMC

Linked Data

• gnomAD v4: 2-25161082-C-CACTCGCCCTTCTTGTAGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161101_25161102insAACTCGCCCTTCTTGTAGGC , CM000664.2:g.25161101_25161102insAACTCGCCCTTCTTGTAGGC	GRCh38
NC_000002.11:g.25383970_25383971insAACTCGCCCTTCTTGTAGGC , CM000664.1:g.25383970_25383971insAACTCGCCCTTCTTGTAGGC	GRCh37
NC_000002.10:g.25237474_25237475insAACTCGCCCTTCTTGTAGGC	NCBI36
NG_008997.1:g.12608_12609insTGCCTACAAGAAGGGCGAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.802_803insTGCCTACAAGAAGGGCGAGT MANE Select	ENSP00000379170.2:p.Ter268LeuextTer?
ENST00000264708.7:c.802_803insTGCCTACAAGAAGGGCGAGT	ENSP00000264708.3:p.Ter268LeuextTer?
ENST00000380794.5:c.802_803insTGCCTACAAGAAGGGCGAGT	ENSP00000370171.1:p.Ter268LeuextTer?
ENST00000395826.6:c.802_803insTGCCTACAAGAAGGGCGAGT	ENSP00000379170.2:p.Ter268LeuextTer?
ENST00000405623.5:c.802_803insTGCCTACAAGAAGGGCGAGT	ENSP00000384092.1:p.Ter268LeuextTer?
NM_000939.2:c.802_803insTGCCTACAAGAAGGGCGAGT	NP_000930.1:p.Ter268LeuextTer?
NM_001035256.1:c.802_803insTGCCTACAAGAAGGGCGAGT	NP_001030333.1:p.Ter268LeuextTer?
XM_011532917.1:c.802_803insTGCCTACAAGAAGGGCGAGT	XP_011531219.1:p.Ter268LeuextTer?
NM_000939.3:c.802_803insTGCCTACAAGAAGGGCGAGT	NP_000930.1:p.Ter268LeuextTer?
NM_001035256.2:c.802_803insTGCCTACAAGAAGGGCGAGT	NP_001030333.1:p.Ter268LeuextTer?
NM_001319204.1:c.802_803insTGCCTACAAGAAGGGCGAGT	NP_001306133.1:p.Ter268LeuextTer?
NM_001319205.1:c.802_803insTGCCTACAAGAAGGGCGAGT	NP_001306134.1:p.Ter268LeuextTer?
NM_000939.4:c.802_803insTGCCTACAAGAAGGGCGAGT MANE Select	NP_000930.1:p.Ter268LeuextTer?
NM_001319204.2:c.802_803insTGCCTACAAGAAGGGCGAGT	NP_001306133.1:p.Ter268LeuextTer?
NM_001319205.2:c.802_803insTGCCTACAAGAAGGGCGAGT	NP_001306134.1:p.Ter268LeuextTer?
NM_001035256.3:c.802_803insTGCCTACAAGAAGGGCGAGT	NP_001030333.1:p.Ter268LeuextTer?