Canonical Allele Identifier: CA43684874

Gene: POMC

Linked Data

• ClinVar Variation Id: 1319356
• ClinVar RCV Id: RCV003238654
• dbSNP Id: rs1553400131
• MyVariant Identifiers: chr2:g.25384456_25384457insT (hg19) ; chr2:g.25161587_25161588insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161587_25161588insT , CM000664.2:g.25161587_25161588insT	GRCh38
NC_000002.11:g.25384456_25384457insT , CM000664.1:g.25384456_25384457insT	GRCh37
NC_000002.10:g.25237960_25237961insT	NCBI36
NG_008997.1:g.12103_12104insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.297_298insA MANE Select	ENSP00000379170.2:p.Ala100SerfsTer19
ENST00000264708.7:c.297_298insA	ENSP00000264708.3:p.Ala100SerfsTer19
ENST00000380794.5:c.297_298insA	ENSP00000370171.1:p.Ala100SerfsTer19
ENST00000395826.6:c.297_298insA	ENSP00000379170.2:p.Ala100SerfsTer19
ENST00000405623.5:c.297_298insA	ENSP00000384092.1:p.Ala100SerfsTer19
ENST00000449220.1:c.297_298insA	ENSP00000387993.1:p.Ala100SerfsTer19
NM_000939.2:c.297_298insA	NP_000930.1:p.Ala100SerfsTer19
NM_001035256.1:c.297_298insA	NP_001030333.1:p.Ala100SerfsTer19
XM_011532917.1:c.297_298insA	XP_011531219.1:p.Ala100SerfsTer19
NM_000939.3:c.297_298insA	NP_000930.1:p.Ala100SerfsTer19
NM_001035256.2:c.297_298insA	NP_001030333.1:p.Ala100SerfsTer19
NM_001319204.1:c.297_298insA	NP_001306133.1:p.Ala100SerfsTer19
NM_001319205.1:c.297_298insA	NP_001306134.1:p.Ala100SerfsTer19
NM_000939.4:c.297_298insA MANE Select	NP_000930.1:p.Ala100SerfsTer19
NM_001319204.2:c.297_298insA	NP_001306133.1:p.Ala100SerfsTer19
NM_001319205.2:c.297_298insA	NP_001306134.1:p.Ala100SerfsTer19
NM_001035256.3:c.297_298insA	NP_001030333.1:p.Ala100SerfsTer19