Canonical Allele Identifier: CA1555246

Gene: POMC

Linked Data

• dbSNP Id: rs776490525
• ExAC: 2:25384099 CCTCGTCCTTCTT / C
• gnomAD v2: 2-25384099-CCTCGTCCTTCTT-C
• gnomAD v4: 2-25161230-CCTCGTCCTTCTT-C
• MyVariant Identifiers: chr2:g.25384100_25384111del (hg19) ; chr2:g.25161231_25161242del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161235_25161246del , CM000664.2:g.25161235_25161246del	GRCh38
NC_000002.11:g.25384104_25384115del , CM000664.1:g.25384104_25384115del	GRCh37
NC_000002.10:g.25237608_25237619del	NCBI36
NG_008997.1:g.12449_12460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.643_654del MANE Select	ENSP00000379170.2:p.Lys215_Glu218del
ENST00000264708.7:c.643_654del	ENSP00000264708.3:p.Lys215_Glu218del
ENST00000380794.5:c.643_654del	ENSP00000370171.1:p.Lys215_Glu218del
ENST00000395826.6:c.643_654del	ENSP00000379170.2:p.Lys215_Glu218del
ENST00000405623.5:c.643_654del	ENSP00000384092.1:p.Lys215_Glu218del
ENST00000449220.1:c.643_654del	ENSP00000387993.1:p.Lys215_Glu218del
NM_000939.2:c.643_654del	NP_000930.1:p.Lys215_Glu218del
NM_001035256.1:c.643_654del	NP_001030333.1:p.Lys215_Glu218del
XM_011532917.1:c.643_654del	XP_011531219.1:p.Lys215_Glu218del
NM_000939.3:c.643_654del	NP_000930.1:p.Lys215_Glu218del
NM_001035256.2:c.643_654del	NP_001030333.1:p.Lys215_Glu218del
NM_001319204.1:c.643_654del	NP_001306133.1:p.Lys215_Glu218del
NM_001319205.1:c.643_654del	NP_001306134.1:p.Lys215_Glu218del
NM_000939.4:c.643_654del MANE Select	NP_000930.1:p.Lys215_Glu218del
NM_001319204.2:c.643_654del	NP_001306133.1:p.Lys215_Glu218del
NM_001319205.2:c.643_654del	NP_001306134.1:p.Lys215_Glu218del
NM_001035256.3:c.643_654del	NP_001030333.1:p.Lys215_Glu218del