Canonical Allele Identifier: CA2635577492

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898772-C-CGCGTAGGGATACACGGCGCGTAGGGGAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898772_4898773insGCGTAGGGATACACGGCGCGTAGGGGAGAT , CM000679.2:g.4898772_4898773insGCGTAGGGATACACGGCGCGTAGGGGAGAT	GRCh38
NC_000017.10:g.4802067_4802068insGCGTAGGGATACACGGCGCGTAGGGGAGAT , CM000679.1:g.4802067_4802068insGCGTAGGGATACACGGCGCGTAGGGGAGAT	GRCh37
NC_000017.9:g.4742846_4742847insGCGTAGGGATACACGGCGCGTAGGGGAGAT	NCBI36
NG_008029.2:g.9303_9304insATCTCCCCTACGCGCCGTGTATCCCTACGC
NG_028005.1:g.70433_70434insGCGTAGGGATACACGGCGCGTAGGGGAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1445_1446insATCTCCCCTACGCGCCGTGTATCCCTACGC MANE Select	ENSP00000497829.1:p.Val482_Pro483insSerProLeuArgAlaValTyrProT...
ENST00000649830.1:c.*81_*82insATCTCCCCTACGCGCCGTGTATCCCTACGC	ENSP00000496907.1:n.*81_*82insATCTCCCCTACGCGCCGTGTATCCCTACGC
ENST00000652550.1:n.1171_1172insATCTCCCCTACGCGCCGTGTATCCCTACGC
ENST00000293780.4:c.1445_1446insATCTCCCCTACGCGCCGTGTATCCCTACGC	ENSP00000293780.4:p.Val482_Pro483insSerProLeuArgAlaValTyrProT...
ENST00000572438.1:n.1131_1132insATCTCCCCTACGCGCCGTGTATCCCTACGC
NM_000080.3:c.1445_1446insATCTCCCCTACGCGCCGTGTATCCCTACGC	NP_000071.1:p.Val482_Pro483insSerProLeuArgAlaValTyrProTyrAla
NM_000080.4:c.1445_1446insATCTCCCCTACGCGCCGTGTATCCCTACGC MANE Select	NP_000071.1:p.Val482_Pro483insSerProLeuArgAlaValTyrProTyrAla
XM_017024115.1:c.1409_1410insATCTCCCCTACGCGCCGTGTATCCCTACGC	XP_016879604.1:p.Val470_Pro471insSerProLeuArgAlaValTyrProTyrA...