Canonical Allele Identifier: CA916494168

Gene: POMC

Linked Data

• dbSNP Id: rs1558627398
• gnomAD v3: 2-25161098-A-AGGCGTTCTTGATG
• gnomAD v4: 2-25161098-A-AGGCGTTCTTGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161099_25161111dup , CM000664.2:g.25161099_25161111dup	GRCh38
NC_000002.11:g.25383968_25383980dup , CM000664.1:g.25383968_25383980dup	GRCh37
NC_000002.10:g.25237472_25237484dup	NCBI36
NG_008997.1:g.12580_12592dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.774_786dup MANE Select	ENSP00000379170.2:p.Tyr263HisfsTer?
ENST00000264708.7:c.774_786dup	ENSP00000264708.3:p.Tyr263HisfsTer?
ENST00000380794.5:c.774_786dup	ENSP00000370171.1:p.Tyr263HisfsTer?
ENST00000395826.6:c.774_786dup	ENSP00000379170.2:p.Tyr263HisfsTer?
ENST00000405623.5:c.774_786dup	ENSP00000384092.1:p.Tyr263HisfsTer?
NM_000939.2:c.774_786dup	NP_000930.1:p.Tyr263HisfsTer?
NM_001035256.1:c.774_786dup	NP_001030333.1:p.Tyr263HisfsTer?
XM_011532917.1:c.774_786dup	XP_011531219.1:p.Tyr263HisfsTer?
NM_000939.3:c.774_786dup	NP_000930.1:p.Tyr263HisfsTer?
NM_001035256.2:c.774_786dup	NP_001030333.1:p.Tyr263HisfsTer?
NM_001319204.1:c.774_786dup	NP_001306133.1:p.Tyr263HisfsTer?
NM_001319205.1:c.774_786dup	NP_001306134.1:p.Tyr263HisfsTer?
NM_000939.4:c.774_786dup MANE Select	NP_000930.1:p.Tyr263HisfsTer?
NM_001319204.2:c.774_786dup	NP_001306133.1:p.Tyr263HisfsTer?
NM_001319205.2:c.774_786dup	NP_001306134.1:p.Tyr263HisfsTer?
NM_001035256.3:c.774_786dup	NP_001030333.1:p.Tyr263HisfsTer?