Canonical Allele Identifier: CA1239233213

Gene: POMC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25167257_25167259delinsCAG , CM000664.2:g.25167257_25167259delinsCAG	GRCh38
NC_000002.11:g.25390126_25390128delinsCAG , CM000664.1:g.25390126_25390128delinsCAG	GRCh37
NC_000002.10:g.25243630_25243632delinsCAG	NCBI36
NG_008997.1:g.6432_6434delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.-21+1239_-21+1241delinsCTG MANE Select	ENSP00000379170.2:n.-21+1239_-21+1241delinsCTG
ENST00000264708.7:c.-101+1239_-101+1241delinsCTG	ENSP00000264708.3:n.-101+1239_-101+1241delinsCTG
ENST00000380794.5:c.-71+1239_-71+1241delinsCTG	ENSP00000370171.1:n.-71+1239_-71+1241delinsCTG
ENST00000395826.6:c.-21+1239_-21+1241delinsCTG	ENSP00000379170.2:n.-21+1239_-21+1241delinsCTG
ENST00000405623.5:c.-51+1239_-51+1241delinsCTG	ENSP00000384092.1:n.-51+1239_-51+1241delinsCTG
ENST00000449220.1:c.-71+1239_-71+1241delinsCTG	ENSP00000387993.1:n.-71+1239_-71+1241delinsCTG
NM_000939.2:c.-21+1239_-21+1241delinsCTG	NP_000930.1:n.-21+1239_-21+1241delinsCTG
NM_001035256.1:c.-71+1239_-71+1241delinsCTG	NP_001030333.1:n.-71+1239_-71+1241delinsCTG
XM_011532917.1:c.-51+1239_-51+1241delinsCTG	XP_011531219.1:n.-51+1239_-51+1241delinsCTG
NM_000939.3:c.-21+1239_-21+1241delinsCTG	NP_000930.1:n.-21+1239_-21+1241delinsCTG
NM_001035256.2:c.-71+1239_-71+1241delinsCTG	NP_001030333.1:n.-71+1239_-71+1241delinsCTG
NM_001319204.1:c.-101+1239_-101+1241delinsCTG	NP_001306133.1:n.-101+1239_-101+1241delinsCTG
NM_001319205.1:c.-51+1239_-51+1241delinsCTG	NP_001306134.1:n.-51+1239_-51+1241delinsCTG
NM_000939.4:c.-21+1239_-21+1241delinsCTG MANE Select	NP_000930.1:n.-21+1239_-21+1241delinsCTG
NM_001319204.2:c.-101+1239_-101+1241delinsCTG	NP_001306133.1:n.-101+1239_-101+1241delinsCTG
NM_001319205.2:c.-51+1239_-51+1241delinsCTG	NP_001306134.1:n.-51+1239_-51+1241delinsCTG
NM_001035256.3:c.-71+1239_-71+1241delinsCTG	NP_001030333.1:n.-71+1239_-71+1241delinsCTG