Canonical Allele Identifier: CA287177973
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs565367818
gnomAD v3: 17-4898155-CTGCAATGAGTGAGCCTCATGGGGTGGGATG-C
gnomAD v4: 17-4898155-CTGCAATGAGTGAGCCTCATGGGGTGGGATG-C
MyVariant Identifiers: chr17:g.4801451_4801480del (hg19) chr17:g.4898156_4898185del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898156_4898185del , CM000679.2:g.4898156_4898185del GRCh38
NC_000017.10:g.4801451_4801480del , CM000679.1:g.4801451_4801480del GRCh37
NC_000017.9:g.4742230_4742259del NCBI36
NG_008029.2:g.9891_9920del
NG_028005.1:g.69817_69846del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*551_*580del MANE Select ENSP00000497829.1:n.*551_*580del
ENST00000649830.1:c.*669_*698del ENSP00000496907.1:n.*669_*698del
ENST00000652550.1:n.1759_1788del
ENST00000293780.4:c.*551_*580del ENSP00000293780.4:n.*551_*580del
ENST00000572438.1:n.1719_1748del
NM_000080.3:c.*551_*580del NP_000071.1:n.*551_*580del
NM_000080.4:c.*551_*580del MANE Select NP_000071.1:n.*551_*580del
XM_017024115.1:c.*551_*580del XP_016879604.1:n.*551_*580del
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