Canonical Allele Identifier: CA1239231425

Gene: POMC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25164517_25164518delinsCT , CM000664.2:g.25164517_25164518delinsCT	GRCh38
NC_000002.11:g.25387386_25387387delinsCT , CM000664.1:g.25387386_25387387delinsCT	GRCh37
NC_000002.10:g.25240890_25240891delinsCT	NCBI36
NG_008997.1:g.9173_9174delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.132+123_132+124delinsAG MANE Select	ENSP00000379170.2:n.132+123_132+124delinsAG
ENST00000264708.7:c.132+123_132+124delinsAG	ENSP00000264708.3:n.132+123_132+124delinsAG
ENST00000380794.5:c.132+123_132+124delinsAG	ENSP00000370171.1:n.132+123_132+124delinsAG
ENST00000395826.6:c.132+123_132+124delinsAG	ENSP00000379170.2:n.132+123_132+124delinsAG
ENST00000405623.5:c.132+123_132+124delinsAG	ENSP00000384092.1:n.132+123_132+124delinsAG
ENST00000449220.1:c.132+123_132+124delinsAG	ENSP00000387993.1:n.132+123_132+124delinsAG
NM_000939.2:c.132+123_132+124delinsAG	NP_000930.1:n.132+123_132+124delinsAG
NM_001035256.1:c.132+123_132+124delinsAG	NP_001030333.1:n.132+123_132+124delinsAG
XM_011532917.1:c.132+123_132+124delinsAG	XP_011531219.1:n.132+123_132+124delinsAG
NM_000939.3:c.132+123_132+124delinsAG	NP_000930.1:n.132+123_132+124delinsAG
NM_001035256.2:c.132+123_132+124delinsAG	NP_001030333.1:n.132+123_132+124delinsAG
NM_001319204.1:c.132+123_132+124delinsAG	NP_001306133.1:n.132+123_132+124delinsAG
NM_001319205.1:c.132+123_132+124delinsAG	NP_001306134.1:n.132+123_132+124delinsAG
NM_000939.4:c.132+123_132+124delinsAG MANE Select	NP_000930.1:n.132+123_132+124delinsAG
NM_001319204.2:c.132+123_132+124delinsAG	NP_001306133.1:n.132+123_132+124delinsAG
NM_001319205.2:c.132+123_132+124delinsAG	NP_001306134.1:n.132+123_132+124delinsAG
NM_001035256.3:c.132+123_132+124delinsAG	NP_001030333.1:n.132+123_132+124delinsAG