Canonical Allele Identifier: CA1239231246

Gene: POMC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25164256_25164258delinsGAA , CM000664.2:g.25164256_25164258delinsGAA	GRCh38
NC_000002.11:g.25387125_25387127delinsGAA , CM000664.1:g.25387125_25387127delinsGAA	GRCh37
NC_000002.10:g.25240629_25240631delinsGAA	NCBI36
NG_008997.1:g.9433_9435delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.132+383_132+385delinsTTC MANE Select	ENSP00000379170.2:n.132+383_132+385delinsTTC
ENST00000264708.7:c.132+383_132+385delinsTTC	ENSP00000264708.3:n.132+383_132+385delinsTTC
ENST00000380794.5:c.132+383_132+385delinsTTC	ENSP00000370171.1:n.132+383_132+385delinsTTC
ENST00000395826.6:c.132+383_132+385delinsTTC	ENSP00000379170.2:n.132+383_132+385delinsTTC
ENST00000405623.5:c.132+383_132+385delinsTTC	ENSP00000384092.1:n.132+383_132+385delinsTTC
ENST00000449220.1:c.132+383_132+385delinsTTC	ENSP00000387993.1:n.132+383_132+385delinsTTC
NM_000939.2:c.132+383_132+385delinsTTC	NP_000930.1:n.132+383_132+385delinsTTC
NM_001035256.1:c.132+383_132+385delinsTTC	NP_001030333.1:n.132+383_132+385delinsTTC
XM_011532917.1:c.132+383_132+385delinsTTC	XP_011531219.1:n.132+383_132+385delinsTTC
NM_000939.3:c.132+383_132+385delinsTTC	NP_000930.1:n.132+383_132+385delinsTTC
NM_001035256.2:c.132+383_132+385delinsTTC	NP_001030333.1:n.132+383_132+385delinsTTC
NM_001319204.1:c.132+383_132+385delinsTTC	NP_001306133.1:n.132+383_132+385delinsTTC
NM_001319205.1:c.132+383_132+385delinsTTC	NP_001306134.1:n.132+383_132+385delinsTTC
NM_000939.4:c.132+383_132+385delinsTTC MANE Select	NP_000930.1:n.132+383_132+385delinsTTC
NM_001319204.2:c.132+383_132+385delinsTTC	NP_001306133.1:n.132+383_132+385delinsTTC
NM_001319205.2:c.132+383_132+385delinsTTC	NP_001306134.1:n.132+383_132+385delinsTTC
NM_001035256.3:c.132+383_132+385delinsTTC	NP_001030333.1:n.132+383_132+385delinsTTC