Canonical Allele Identifier: CA425353361

Gene: POMC

Linked Data

• ClinVar Variation Id: 3029669
• ClinVar RCV Id: RCV004531786
• dbSNP Id: rs1314705916
• gnomAD v2: 2-25384105-CCTT-C
• gnomAD v4: 2-25161236-CCTT-C
• MyVariant Identifiers: chr2:g.25384106_25384108del (hg19) ; chr2:g.25161237_25161239del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161242_25161244del , CM000664.2:g.25161242_25161244del	GRCh38
NC_000002.11:g.25384111_25384113del , CM000664.1:g.25384111_25384113del	GRCh37
NC_000002.10:g.25237615_25237617del	NCBI36
NG_008997.1:g.12452_12454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.646_648del MANE Select	ENSP00000379170.2:p.Lys216del
ENST00000264708.7:c.646_648del	ENSP00000264708.3:p.Lys216del
ENST00000380794.5:c.646_648del	ENSP00000370171.1:p.Lys216del
ENST00000395826.6:c.646_648del	ENSP00000379170.2:p.Lys216del
ENST00000405623.5:c.646_648del	ENSP00000384092.1:p.Lys216del
ENST00000449220.1:c.646_648del	ENSP00000387993.1:p.Lys216del
NM_000939.2:c.646_648del	NP_000930.1:p.Lys216del
NM_001035256.1:c.646_648del	NP_001030333.1:p.Lys216del
XM_011532917.1:c.646_648del	XP_011531219.1:p.Lys216del
NM_000939.3:c.646_648del	NP_000930.1:p.Lys216del
NM_001035256.2:c.646_648del	NP_001030333.1:p.Lys216del
NM_001319204.1:c.646_648del	NP_001306133.1:p.Lys216del
NM_001319205.1:c.646_648del	NP_001306134.1:p.Lys216del
NM_000939.4:c.646_648del MANE Select	NP_000930.1:p.Lys216del
NM_001319204.2:c.646_648del	NP_001306133.1:p.Lys216del
NM_001319205.2:c.646_648del	NP_001306134.1:p.Lys216del
NM_001035256.3:c.646_648del	NP_001030333.1:p.Lys216del