Canonical Allele Identifier: CA1239233132

Gene: POMC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25167071_25167075delinsGCTCT , CM000664.2:g.25167071_25167075delinsGCTCT	GRCh38
NC_000002.11:g.25389940_25389944delinsGCTCT , CM000664.1:g.25389940_25389944delinsGCTCT	GRCh37
NC_000002.10:g.25243444_25243448delinsGCTCT	NCBI36
NG_008997.1:g.6616_6620delinsAGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.-21+1423_-21+1427delinsAGAGC MANE Select	ENSP00000379170.2:n.-21+1423_-21+1427delinsAGAGC
ENST00000264708.7:c.-100-1390_-100-1386delinsAGAGC	ENSP00000264708.3:n.-100-1390_-100-1386delinsAGAGC
ENST00000380794.5:c.-70-1390_-70-1386delinsAGAGC	ENSP00000370171.1:n.-70-1390_-70-1386delinsAGAGC
ENST00000395826.6:c.-21+1423_-21+1427delinsAGAGC	ENSP00000379170.2:n.-21+1423_-21+1427delinsAGAGC
ENST00000405623.5:c.-51+1423_-51+1427delinsAGAGC	ENSP00000384092.1:n.-51+1423_-51+1427delinsAGAGC
ENST00000449220.1:c.-70-1390_-70-1386delinsAGAGC	ENSP00000387993.1:n.-70-1390_-70-1386delinsAGAGC
NM_000939.2:c.-21+1423_-21+1427delinsAGAGC	NP_000930.1:n.-21+1423_-21+1427delinsAGAGC
NM_001035256.1:c.-70-1390_-70-1386delinsAGAGC	NP_001030333.1:n.-70-1390_-70-1386delinsAGAGC
XM_011532917.1:c.-51+1423_-51+1427delinsAGAGC	XP_011531219.1:n.-51+1423_-51+1427delinsAGAGC
NM_000939.3:c.-21+1423_-21+1427delinsAGAGC	NP_000930.1:n.-21+1423_-21+1427delinsAGAGC
NM_001035256.2:c.-70-1390_-70-1386delinsAGAGC	NP_001030333.1:n.-70-1390_-70-1386delinsAGAGC
NM_001319204.1:c.-100-1390_-100-1386delinsAGAGC	NP_001306133.1:n.-100-1390_-100-1386delinsAGAGC
NM_001319205.1:c.-51+1423_-51+1427delinsAGAGC	NP_001306134.1:n.-51+1423_-51+1427delinsAGAGC
NM_000939.4:c.-21+1423_-21+1427delinsAGAGC MANE Select	NP_000930.1:n.-21+1423_-21+1427delinsAGAGC
NM_001319204.2:c.-100-1390_-100-1386delinsAGAGC	NP_001306133.1:n.-100-1390_-100-1386delinsAGAGC
NM_001319205.2:c.-51+1423_-51+1427delinsAGAGC	NP_001306134.1:n.-51+1423_-51+1427delinsAGAGC
NM_001035256.3:c.-70-1390_-70-1386delinsAGAGC	NP_001030333.1:n.-70-1390_-70-1386delinsAGAGC