Canonical Allele Identifier: CA2754656848
Gene: CHRNG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541449_232541455del , CM000664.2:g.232541449_232541455del GRCh38
NC_000002.11:g.233406159_233406165del , CM000664.1:g.233406159_233406165del GRCh37
NC_000002.10:g.233114403_233114409del NCBI36
NG_012954.1:g.6723_6729del
NG_012954.2:g.6758_6764del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.426_432del MANE Select ENSP00000498757.1:p.Pro143SerfsTer?
ENST00000389492.3:c.350+738_350+744del ENSP00000374143.3:n.350+738_350+744del
ENST00000389494.7:c.426_432del ENSP00000374145.3:p.Pro143SerfsTer?
ENST00000485094.1:n.447_453del
NM_005199.4:c.426_432del NP_005190.4:p.Pro143SerfsTer?
NM_005199.5:c.426_432del MANE Select NP_005190.4:p.Pro143SerfsTer?