Canonical Allele Identifier: CA531358922

Gene: POMC

Linked Data

• dbSNP Id: rs1287716281
• gnomAD v2: 2-25387017-G-GA
• gnomAD v3: 2-25164148-G-GA
• gnomAD v4: 2-25164148-G-GA
• MyVariant Identifiers: chr2:g.25387018_25387019insA (hg19) ; chr2:g.25387017_25387018insA (hg19) ; chr2:g.25164149_25164150insA (hg38) ; chr2:g.25164148_25164149insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25164160dup , CM000664.2:g.25164160dup	GRCh38
NC_000002.11:g.25387029dup , CM000664.1:g.25387029dup	GRCh37
NC_000002.10:g.25240533dup	NCBI36
NG_008997.1:g.9542dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.132+492dup MANE Select	ENSP00000379170.2:n.132+492dup
ENST00000264708.7:c.132+492dup	ENSP00000264708.3:n.132+492dup
ENST00000380794.5:c.132+492dup	ENSP00000370171.1:n.132+492dup
ENST00000395826.6:c.132+492dup	ENSP00000379170.2:n.132+492dup
ENST00000405623.5:c.132+492dup	ENSP00000384092.1:n.132+492dup
ENST00000449220.1:c.132+492dup	ENSP00000387993.1:n.132+492dup
NM_000939.2:c.132+492dup	NP_000930.1:n.132+492dup
NM_001035256.1:c.132+492dup	NP_001030333.1:n.132+492dup
XM_011532917.1:c.132+492dup	XP_011531219.1:n.132+492dup
NM_000939.3:c.132+492dup	NP_000930.1:n.132+492dup
NM_001035256.2:c.132+492dup	NP_001030333.1:n.132+492dup
NM_001319204.1:c.132+492dup	NP_001306133.1:n.132+492dup
NM_001319205.1:c.132+492dup	NP_001306134.1:n.132+492dup
NM_000939.4:c.132+492dup MANE Select	NP_000930.1:n.132+492dup
NM_001319204.2:c.132+492dup	NP_001306133.1:n.132+492dup
NM_001319205.2:c.132+492dup	NP_001306134.1:n.132+492dup
NM_001035256.3:c.132+492dup	NP_001030333.1:n.132+492dup