Canonical Allele Identifier: CA43684282

Gene: POMC

Linked Data

• dbSNP Id: rs948316373
• gnomAD v2: 2-25383955-CGCCCTTCTTGTA-C
• gnomAD v3: 2-25161086-CGCCCTTCTTGTA-C
• gnomAD v4: 2-25161086-CGCCCTTCTTGTA-C
• MyVariant Identifiers: chr2:g.25383956_25383967del (hg19) ; chr2:g.25161087_25161098del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161088_25161099del , CM000664.2:g.25161088_25161099del	GRCh38
NC_000002.11:g.25383957_25383968del , CM000664.1:g.25383957_25383968del	GRCh37
NC_000002.10:g.25237461_25237472del	NCBI36
NG_008997.1:g.12593_12604del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.787_798del MANE Select	ENSP00000379170.2:p.Tyr263_Gly266del
ENST00000264708.7:c.787_798del	ENSP00000264708.3:p.Tyr263_Gly266del
ENST00000380794.5:c.787_798del	ENSP00000370171.1:p.Tyr263_Gly266del
ENST00000395826.6:c.787_798del	ENSP00000379170.2:p.Tyr263_Gly266del
ENST00000405623.5:c.787_798del	ENSP00000384092.1:p.Tyr263_Gly266del
NM_000939.2:c.787_798del	NP_000930.1:p.Tyr263_Gly266del
NM_001035256.1:c.787_798del	NP_001030333.1:p.Tyr263_Gly266del
XM_011532917.1:c.787_798del	XP_011531219.1:p.Tyr263_Gly266del
NM_000939.3:c.787_798del	NP_000930.1:p.Tyr263_Gly266del
NM_001035256.2:c.787_798del	NP_001030333.1:p.Tyr263_Gly266del
NM_001319204.1:c.787_798del	NP_001306133.1:p.Tyr263_Gly266del
NM_001319205.1:c.787_798del	NP_001306134.1:p.Tyr263_Gly266del
NM_000939.4:c.787_798del MANE Select	NP_000930.1:p.Tyr263_Gly266del
NM_001319204.2:c.787_798del	NP_001306133.1:p.Tyr263_Gly266del
NM_001319205.2:c.787_798del	NP_001306134.1:p.Tyr263_Gly266del
NM_001035256.3:c.787_798del	NP_001030333.1:p.Tyr263_Gly266del