Canonical Allele Identifier: CA1555339

Gene: POMC

Linked Data

• dbSNP Id: rs777956562
• ExAC: 2:25384473 C / CTGCTGCTGT
• gnomAD v2: 2-25384473-C-CTGCTGCTGT
• gnomAD v4: 2-25161604-C-CTGCTGCTGT
• MyVariant Identifiers: chr2:g.25384473_25384474insTGCTGCTGT (hg19) ; chr2:g.25161604_25161605insTGCTGCTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161608_25161616dup , CM000664.2:g.25161608_25161616dup	GRCh38
NC_000002.11:g.25384477_25384485dup , CM000664.1:g.25384477_25384485dup	GRCh37
NC_000002.10:g.25237981_25237989dup	NCBI36
NG_008997.1:g.12078_12086dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.272_280dup MANE Select	ENSP00000379170.2:p.Ser93_Ser94insAsnSerSer
ENST00000264708.7:c.272_280dup	ENSP00000264708.3:p.Ser93_Ser94insAsnSerSer
ENST00000380794.5:c.272_280dup	ENSP00000370171.1:p.Ser93_Ser94insAsnSerSer
ENST00000395826.6:c.272_280dup	ENSP00000379170.2:p.Ser93_Ser94insAsnSerSer
ENST00000405623.5:c.272_280dup	ENSP00000384092.1:p.Ser93_Ser94insAsnSerSer
ENST00000449220.1:c.272_280dup	ENSP00000387993.1:p.Ser93_Ser94insAsnSerSer
NM_000939.2:c.272_280dup	NP_000930.1:p.Ser93_Ser94insAsnSerSer
NM_001035256.1:c.272_280dup	NP_001030333.1:p.Ser93_Ser94insAsnSerSer
XM_011532917.1:c.272_280dup	XP_011531219.1:p.Ser93_Ser94insAsnSerSer
NM_000939.3:c.272_280dup	NP_000930.1:p.Ser93_Ser94insAsnSerSer
NM_001035256.2:c.272_280dup	NP_001030333.1:p.Ser93_Ser94insAsnSerSer
NM_001319204.1:c.272_280dup	NP_001306133.1:p.Ser93_Ser94insAsnSerSer
NM_001319205.1:c.272_280dup	NP_001306134.1:p.Ser93_Ser94insAsnSerSer
NM_000939.4:c.272_280dup MANE Select	NP_000930.1:p.Ser93_Ser94insAsnSerSer
NM_001319204.2:c.272_280dup	NP_001306133.1:p.Ser93_Ser94insAsnSerSer
NM_001319205.2:c.272_280dup	NP_001306134.1:p.Ser93_Ser94insAsnSerSer
NM_001035256.3:c.272_280dup	NP_001030333.1:p.Ser93_Ser94insAsnSerSer