Canonical Allele Identifier: CA2658163217

Gene: POMC

Linked Data

• gnomAD v4: 2-25161612-G-GCCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161612_25161613insCCGC , CM000664.2:g.25161612_25161613insCCGC	GRCh38
NC_000002.11:g.25384481_25384482insCCGC , CM000664.1:g.25384481_25384482insCCGC	GRCh37
NC_000002.10:g.25237985_25237986insCCGC	NCBI36
NG_008997.1:g.12078_12079insGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.272_273insGCGG MANE Select	ENSP00000379170.2:p.Asn91LysfsTer29
ENST00000264708.7:c.272_273insGCGG	ENSP00000264708.3:p.Asn91LysfsTer29
ENST00000380794.5:c.272_273insGCGG	ENSP00000370171.1:p.Asn91LysfsTer29
ENST00000395826.6:c.272_273insGCGG	ENSP00000379170.2:p.Asn91LysfsTer29
ENST00000405623.5:c.272_273insGCGG	ENSP00000384092.1:p.Asn91LysfsTer29
ENST00000449220.1:c.272_273insGCGG	ENSP00000387993.1:p.Asn91LysfsTer29
NM_000939.2:c.272_273insGCGG	NP_000930.1:p.Asn91LysfsTer29
NM_001035256.1:c.272_273insGCGG	NP_001030333.1:p.Asn91LysfsTer29
XM_011532917.1:c.272_273insGCGG	XP_011531219.1:p.Asn91LysfsTer29
NM_000939.3:c.272_273insGCGG	NP_000930.1:p.Asn91LysfsTer29
NM_001035256.2:c.272_273insGCGG	NP_001030333.1:p.Asn91LysfsTer29
NM_001319204.1:c.272_273insGCGG	NP_001306133.1:p.Asn91LysfsTer29
NM_001319205.1:c.272_273insGCGG	NP_001306134.1:p.Asn91LysfsTer29
NM_000939.4:c.272_273insGCGG MANE Select	NP_000930.1:p.Asn91LysfsTer29
NM_001319204.2:c.272_273insGCGG	NP_001306133.1:p.Asn91LysfsTer29
NM_001319205.2:c.272_273insGCGG	NP_001306134.1:p.Asn91LysfsTer29
NM_001035256.3:c.272_273insGCGG	NP_001030333.1:p.Asn91LysfsTer29