Canonical Allele Identifier: CA1555415

Gene: POMC

Linked Data

• dbSNP Id: rs779090267
• ExAC: 2:25387598 G / GGGGC
• gnomAD v2: 2-25387598-G-GGGGC
• gnomAD v4: 2-25164729-G-GGGGC
• MyVariant Identifiers: chr2:g.25387598_25387599insGGGC (hg19) ; chr2:g.25164729_25164730insGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25164729_25164730insGGGC , CM000664.2:g.25164729_25164730insGGGC	GRCh38
NC_000002.11:g.25387598_25387599insGGGC , CM000664.1:g.25387598_25387599insGGGC	GRCh37
NC_000002.10:g.25241102_25241103insGGGC	NCBI36
NG_008997.1:g.8961_8962insGCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.43_44insGCCC MANE Select	ENSP00000379170.2:p.Ala15GlyfsTer?
ENST00000264708.7:c.43_44insGCCC	ENSP00000264708.3:p.Ala15GlyfsTer?
ENST00000380794.5:c.43_44insGCCC	ENSP00000370171.1:p.Ala15GlyfsTer?
ENST00000395826.6:c.43_44insGCCC	ENSP00000379170.2:p.Ala15GlyfsTer?
ENST00000405623.5:c.43_44insGCCC	ENSP00000384092.1:p.Ala15GlyfsTer?
ENST00000449220.1:c.43_44insGCCC	ENSP00000387993.1:p.Ala15GlyfsTer?
NM_000939.2:c.43_44insGCCC	NP_000930.1:p.Ala15GlyfsTer?
NM_001035256.1:c.43_44insGCCC	NP_001030333.1:p.Ala15GlyfsTer?
XM_011532917.1:c.43_44insGCCC	XP_011531219.1:p.Ala15GlyfsTer?
NM_000939.3:c.43_44insGCCC	NP_000930.1:p.Ala15GlyfsTer?
NM_001035256.2:c.43_44insGCCC	NP_001030333.1:p.Ala15GlyfsTer?
NM_001319204.1:c.43_44insGCCC	NP_001306133.1:p.Ala15GlyfsTer?
NM_001319205.1:c.43_44insGCCC	NP_001306134.1:p.Ala15GlyfsTer?
NM_000939.4:c.43_44insGCCC MANE Select	NP_000930.1:p.Ala15GlyfsTer?
NM_001319204.2:c.43_44insGCCC	NP_001306133.1:p.Ala15GlyfsTer?
NM_001319205.2:c.43_44insGCCC	NP_001306134.1:p.Ala15GlyfsTer?
NM_001035256.3:c.43_44insGCCC	NP_001030333.1:p.Ala15GlyfsTer?