Canonical Allele Identifier: CA1555260

Gene: POMC

Linked Data

• ClinVar Variation Id: 420163
• ClinVar RCV Id: RCV000487385 ; RCV001263288
• dbSNP Id: rs762710034
• ExAC: 2:25384149 T / TGGGCCC
• gnomAD v2: 2-25384149-T-TGGGCCC
• gnomAD v3: 2-25161280-T-TGGGCCC
• gnomAD v4: 2-25161280-T-TGGGCCC
• MyVariant Identifiers: chr2:g.25384150_25384155dupGGGCCC (hg19) ; chr2:g.25384149_25384150insGGGCCC (hg19) ; chr2:g.25161281_25161286dupGGGCCC (hg38) ; chr2:g.25161280_25161281insGGGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161281_25161286dup , CM000664.2:g.25161281_25161286dup	GRCh38
NC_000002.11:g.25384150_25384155dup , CM000664.1:g.25384150_25384155dup	GRCh37
NC_000002.10:g.25237654_25237659dup	NCBI36
NG_008997.1:g.12405_12410dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.599_604dup MANE Select	ENSP00000379170.2:p.Ala201_Gln202insArgAla
ENST00000264708.7:c.599_604dup	ENSP00000264708.3:p.Ala201_Gln202insArgAla
ENST00000380794.5:c.599_604dup	ENSP00000370171.1:p.Ala201_Gln202insArgAla
ENST00000395826.6:c.599_604dup	ENSP00000379170.2:p.Ala201_Gln202insArgAla
ENST00000405623.5:c.599_604dup	ENSP00000384092.1:p.Ala201_Gln202insArgAla
ENST00000449220.1:c.599_604dup	ENSP00000387993.1:p.Ala201_Gln202insArgAla
NM_000939.2:c.599_604dup	NP_000930.1:p.Ala201_Gln202insArgAla
NM_001035256.1:c.599_604dup	NP_001030333.1:p.Ala201_Gln202insArgAla
XM_011532917.1:c.599_604dup	XP_011531219.1:p.Ala201_Gln202insArgAla
NM_000939.3:c.599_604dup	NP_000930.1:p.Ala201_Gln202insArgAla
NM_001035256.2:c.599_604dup	NP_001030333.1:p.Ala201_Gln202insArgAla
NM_001319204.1:c.599_604dup	NP_001306133.1:p.Ala201_Gln202insArgAla
NM_001319205.1:c.599_604dup	NP_001306134.1:p.Ala201_Gln202insArgAla
NM_000939.4:c.599_604dup MANE Select	NP_000930.1:p.Ala201_Gln202insArgAla
NM_001319204.2:c.599_604dup	NP_001306133.1:p.Ala201_Gln202insArgAla
NM_001319205.2:c.599_604dup	NP_001306134.1:p.Ala201_Gln202insArgAla
NM_001035256.3:c.599_604dup	NP_001030333.1:p.Ala201_Gln202insArgAla