Canonical Allele Identifier: CA1028505739

Gene: POMC

Linked Data

• dbSNP Id: rs1671411409
• gnomAD v3: 2-25162014-A-ACTTCC
• gnomAD v4: 2-25162014-A-ACTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25162016_25162020dup , CM000664.2:g.25162016_25162020dup	GRCh38
NC_000002.11:g.25384885_25384889dup , CM000664.1:g.25384885_25384889dup	GRCh37
NC_000002.10:g.25238389_25238393dup	NCBI36
NG_008997.1:g.11672_11676dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.133-267_133-263dup MANE Select	ENSP00000379170.2:n.133-267_133-263dup
ENST00000264708.7:c.133-267_133-263dup	ENSP00000264708.3:n.133-267_133-263dup
ENST00000380794.5:c.133-267_133-263dup	ENSP00000370171.1:n.133-267_133-263dup
ENST00000395826.6:c.133-267_133-263dup	ENSP00000379170.2:n.133-267_133-263dup
ENST00000405623.5:c.133-267_133-263dup	ENSP00000384092.1:n.133-267_133-263dup
ENST00000449220.1:c.133-267_133-263dup	ENSP00000387993.1:n.133-267_133-263dup
NM_000939.2:c.133-267_133-263dup	NP_000930.1:n.133-267_133-263dup
NM_001035256.1:c.133-267_133-263dup	NP_001030333.1:n.133-267_133-263dup
XM_011532917.1:c.133-267_133-263dup	XP_011531219.1:n.133-267_133-263dup
NM_000939.3:c.133-267_133-263dup	NP_000930.1:n.133-267_133-263dup
NM_001035256.2:c.133-267_133-263dup	NP_001030333.1:n.133-267_133-263dup
NM_001319204.1:c.133-267_133-263dup	NP_001306133.1:n.133-267_133-263dup
NM_001319205.1:c.133-267_133-263dup	NP_001306134.1:n.133-267_133-263dup
NM_000939.4:c.133-267_133-263dup MANE Select	NP_000930.1:n.133-267_133-263dup
NM_001319204.2:c.133-267_133-263dup	NP_001306133.1:n.133-267_133-263dup
NM_001319205.2:c.133-267_133-263dup	NP_001306134.1:n.133-267_133-263dup
NM_001035256.3:c.133-267_133-263dup	NP_001030333.1:n.133-267_133-263dup