Canonical Allele Identifier: CA1028507551

Gene: POMC

Linked Data

• dbSNP Id: rs1671593488
• gnomAD v3: 2-25167441-TTC-T
• gnomAD v4: 2-25167441-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25167442_25167443del , CM000664.2:g.25167442_25167443del	GRCh38
NC_000002.11:g.25390311_25390312del , CM000664.1:g.25390311_25390312del	GRCh37
NC_000002.10:g.25243815_25243816del	NCBI36
NG_008997.1:g.6248_6249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.-21+1055_-21+1056del MANE Select	ENSP00000379170.2:n.-21+1055_-21+1056del
ENST00000264708.7:c.-101+1055_-101+1056del	ENSP00000264708.3:n.-101+1055_-101+1056del
ENST00000380794.5:c.-71+1055_-71+1056del	ENSP00000370171.1:n.-71+1055_-71+1056del
ENST00000395826.6:c.-21+1055_-21+1056del	ENSP00000379170.2:n.-21+1055_-21+1056del
ENST00000405623.5:c.-51+1055_-51+1056del	ENSP00000384092.1:n.-51+1055_-51+1056del
ENST00000449220.1:c.-71+1055_-71+1056del	ENSP00000387993.1:n.-71+1055_-71+1056del
NM_000939.2:c.-21+1055_-21+1056del	NP_000930.1:n.-21+1055_-21+1056del
NM_001035256.1:c.-71+1055_-71+1056del	NP_001030333.1:n.-71+1055_-71+1056del
XM_011532917.1:c.-51+1055_-51+1056del	XP_011531219.1:n.-51+1055_-51+1056del
NM_000939.3:c.-21+1055_-21+1056del	NP_000930.1:n.-21+1055_-21+1056del
NM_001035256.2:c.-71+1055_-71+1056del	NP_001030333.1:n.-71+1055_-71+1056del
NM_001319204.1:c.-101+1055_-101+1056del	NP_001306133.1:n.-101+1055_-101+1056del
NM_001319205.1:c.-51+1055_-51+1056del	NP_001306134.1:n.-51+1055_-51+1056del
NM_000939.4:c.-21+1055_-21+1056del MANE Select	NP_000930.1:n.-21+1055_-21+1056del
NM_001319204.2:c.-101+1055_-101+1056del	NP_001306133.1:n.-101+1055_-101+1056del
NM_001319205.2:c.-51+1055_-51+1056del	NP_001306134.1:n.-51+1055_-51+1056del
NM_001035256.3:c.-71+1055_-71+1056del	NP_001030333.1:n.-71+1055_-71+1056del