Canonical Allele Identifier: CA531359915

Gene: POMC

Linked Data

• dbSNP Id: rs1256577737
• gnomAD v2: 2-25390159-AT-A
• gnomAD v3: 2-25167290-AT-A
• gnomAD v4: 2-25167290-AT-A
• MyVariant Identifiers: chr2:g.25390160del (hg19) ; chr2:g.25167291del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25167291del , CM000664.2:g.25167291del	GRCh38
NC_000002.11:g.25390160del , CM000664.1:g.25390160del	GRCh37
NC_000002.10:g.25243664del	NCBI36
NG_008997.1:g.6400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.-21+1207del MANE Select	ENSP00000379170.2:n.-21+1207del
ENST00000264708.7:c.-101+1207del	ENSP00000264708.3:n.-101+1207del
ENST00000380794.5:c.-71+1207del	ENSP00000370171.1:n.-71+1207del
ENST00000395826.6:c.-21+1207del	ENSP00000379170.2:n.-21+1207del
ENST00000405623.5:c.-51+1207del	ENSP00000384092.1:n.-51+1207del
ENST00000449220.1:c.-71+1207del	ENSP00000387993.1:n.-71+1207del
NM_000939.2:c.-21+1207del	NP_000930.1:n.-21+1207del
NM_001035256.1:c.-71+1207del	NP_001030333.1:n.-71+1207del
XM_011532917.1:c.-51+1207del	XP_011531219.1:n.-51+1207del
NM_000939.3:c.-21+1207del	NP_000930.1:n.-21+1207del
NM_001035256.2:c.-71+1207del	NP_001030333.1:n.-71+1207del
NM_001319204.1:c.-101+1207del	NP_001306133.1:n.-101+1207del
NM_001319205.1:c.-51+1207del	NP_001306134.1:n.-51+1207del
NM_000939.4:c.-21+1207del MANE Select	NP_000930.1:n.-21+1207del
NM_001319204.2:c.-101+1207del	NP_001306133.1:n.-101+1207del
NM_001319205.2:c.-51+1207del	NP_001306134.1:n.-51+1207del
NM_001035256.3:c.-71+1207del	NP_001030333.1:n.-71+1207del