Canonical Allele Identifier: CA1555409

Gene: POMC

Linked Data

• dbSNP Id: rs757563301
• ExAC: 2:25387560 ACCAG / A
• gnomAD v2: 2-25387560-ACCAG-A
• gnomAD v4: 2-25164691-ACCAG-A
• MyVariant Identifiers: chr2:g.25387561_25387564del (hg19) ; chr2:g.25164692_25164695del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25164695_25164698del , CM000664.2:g.25164695_25164698del	GRCh38
NC_000002.11:g.25387564_25387567del , CM000664.1:g.25387564_25387567del	GRCh37
NC_000002.10:g.25241068_25241071del	NCBI36
NG_008997.1:g.8996_8999del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.78_81del MANE Select	ENSP00000379170.2:p.Trp27AlafsTer?
ENST00000264708.7:c.78_81del	ENSP00000264708.3:p.Trp27AlafsTer?
ENST00000380794.5:c.78_81del	ENSP00000370171.1:p.Trp27AlafsTer?
ENST00000395826.6:c.78_81del	ENSP00000379170.2:p.Trp27AlafsTer?
ENST00000405623.5:c.78_81del	ENSP00000384092.1:p.Trp27AlafsTer?
ENST00000449220.1:c.78_81del	ENSP00000387993.1:p.Trp27AlafsTer?
NM_000939.2:c.78_81del	NP_000930.1:p.Trp27AlafsTer?
NM_001035256.1:c.78_81del	NP_001030333.1:p.Trp27AlafsTer?
XM_011532917.1:c.78_81del	XP_011531219.1:p.Trp27AlafsTer?
NM_000939.3:c.78_81del	NP_000930.1:p.Trp27AlafsTer?
NM_001035256.2:c.78_81del	NP_001030333.1:p.Trp27AlafsTer?
NM_001319204.1:c.78_81del	NP_001306133.1:p.Trp27AlafsTer?
NM_001319205.1:c.78_81del	NP_001306134.1:p.Trp27AlafsTer?
NM_000939.4:c.78_81del MANE Select	NP_000930.1:p.Trp27AlafsTer?
NM_001319204.2:c.78_81del	NP_001306133.1:p.Trp27AlafsTer?
NM_001319205.2:c.78_81del	NP_001306134.1:p.Trp27AlafsTer?
NM_001035256.3:c.78_81del	NP_001030333.1:p.Trp27AlafsTer?