Canonical Allele Identifier: CA767151076

Gene: POMC

Linked Data

• dbSNP Id: rs1186704687
• gnomAD v3: 2-25164405-GAAGT-G
• gnomAD v4: 2-25164405-GAAGT-G
• MyVariant Identifiers: chr2:g.25387275_25387278del (hg19) ; chr2:g.25164406_25164409del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25164409_25164412del , CM000664.2:g.25164409_25164412del	GRCh38
NC_000002.11:g.25387278_25387281del , CM000664.1:g.25387278_25387281del	GRCh37
NC_000002.10:g.25240782_25240785del	NCBI36
NG_008997.1:g.9282_9285del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.132+232_132+235del MANE Select	ENSP00000379170.2:n.132+232_132+235del
ENST00000264708.7:c.132+232_132+235del	ENSP00000264708.3:n.132+232_132+235del
ENST00000380794.5:c.132+232_132+235del	ENSP00000370171.1:n.132+232_132+235del
ENST00000395826.6:c.132+232_132+235del	ENSP00000379170.2:n.132+232_132+235del
ENST00000405623.5:c.132+232_132+235del	ENSP00000384092.1:n.132+232_132+235del
ENST00000449220.1:c.132+232_132+235del	ENSP00000387993.1:n.132+232_132+235del
NM_000939.2:c.132+232_132+235del	NP_000930.1:n.132+232_132+235del
NM_001035256.1:c.132+232_132+235del	NP_001030333.1:n.132+232_132+235del
XM_011532917.1:c.132+232_132+235del	XP_011531219.1:n.132+232_132+235del
NM_000939.3:c.132+232_132+235del	NP_000930.1:n.132+232_132+235del
NM_001035256.2:c.132+232_132+235del	NP_001030333.1:n.132+232_132+235del
NM_001319204.1:c.132+232_132+235del	NP_001306133.1:n.132+232_132+235del
NM_001319205.1:c.132+232_132+235del	NP_001306134.1:n.132+232_132+235del
NM_000939.4:c.132+232_132+235del MANE Select	NP_000930.1:n.132+232_132+235del
NM_001319204.2:c.132+232_132+235del	NP_001306133.1:n.132+232_132+235del
NM_001319205.2:c.132+232_132+235del	NP_001306134.1:n.132+232_132+235del
NM_001035256.3:c.132+232_132+235del	NP_001030333.1:n.132+232_132+235del