Canonical Allele Identifier: CA8313782
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs769274093
ExAC: 17:4801982 AAAATCAATTTCCTACT / A
gnomAD v2: 17-4801982-AAAATCAATTTCCTACT-A
gnomAD v3: 17-4898687-AAAATCAATTTCCTACT-A
gnomAD v4: 17-4898687-AAAATCAATTTCCTACT-A
MyVariant Identifiers: chr17:g.4801983_4801998del (hg19) chr17:g.4898688_4898703del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898688_4898703del , CM000679.2:g.4898688_4898703del GRCh38
NC_000017.10:g.4801983_4801998del , CM000679.1:g.4801983_4801998del GRCh37
NC_000017.9:g.4742762_4742777del NCBI36
NG_008029.2:g.9373_9388del
NG_028005.1:g.70349_70364del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*33_*48del MANE Select ENSP00000497829.1:n.*33_*48del
ENST00000649830.1:c.*151_*166del ENSP00000496907.1:n.*151_*166del
ENST00000652550.1:n.1241_1256del
ENST00000293780.4:c.*33_*48del ENSP00000293780.4:n.*33_*48del
ENST00000572438.1:n.1201_1216del
NM_000080.3:c.*33_*48del NP_000071.1:n.*33_*48del
NM_000080.4:c.*33_*48del MANE Select NP_000071.1:n.*33_*48del
XM_017024115.1:c.*33_*48del XP_016879604.1:n.*33_*48del
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