Canonical Allele Identifier: CA772623896

Gene: CHRNE

Linked Data

• dbSNP Id: rs1450804557
• gnomAD v3: 17-4899365-G-GGCA
• gnomAD v4: 17-4899365-G-GGCA
• MyVariant Identifiers: chr17:g.4802660_4802661insGCA (hg19) ; chr17:g.4899365_4899366insGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899371_4899373dup , CM000679.2:g.4899371_4899373dup	GRCh38
NC_000017.10:g.4802666_4802668dup , CM000679.1:g.4802666_4802668dup	GRCh37
NC_000017.9:g.4743445_4743447dup	NCBI36
NG_008029.2:g.8708_8710dup
NG_028005.1:g.71032_71034dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1049_1051dup MANE Select	ENSP00000497829.1:p.Leu350_Pro351insLeu
ENST00000649830.1:c.116_118dup	ENSP00000496907.1:p.Leu39_Pro40insLeu
ENST00000652550.1:n.779_781dup
ENST00000293780.4:c.1049_1051dup	ENSP00000293780.4:p.Leu350_Pro351insLeu
ENST00000572438.1:n.735_737dup
NM_000080.3:c.1049_1051dup	NP_000071.1:p.Leu350_Pro351insLeu
NM_000080.4:c.1049_1051dup MANE Select	NP_000071.1:p.Leu350_Pro351insLeu
XM_017024115.1:c.1013_1015dup	XP_016879604.1:p.Leu338_Pro339insLeu
XR_001752421.1:n.1779_1781dup