Canonical Allele Identifier: CA275193
Gene: COG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 196587
ClinVar RCV Id: RCV000177415 RCV001852190
dbSNP Id: rs797044712
gnomAD v2: 16-23456480-C-CA
gnomAD v4: 16-23445159-C-CA
MyVariant Identifiers: chr16:g.23456481dupA (hg19) chr16:g.23456480_23456481insA (hg19) chr16:g.23445160dupA (hg38) chr16:g.23445159_23445160insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23445161dup , CM000678.2:g.23445161dup GRCh38
NC_000016.9:g.23456482dup , CM000678.1:g.23456482dup GRCh37
NC_000016.8:g.23363983dup NCBI36
NG_021287.1:g.13032dup

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.323dup MANE Select ENSP00000305442.5:p.Leu108PhefsTer5
ENST00000307149.9:c.323dup ENSP00000305442.5:p.Leu108PhefsTer5
NM_153603.3:c.323dup NP_705831.1:p.Leu108PhefsTer5
XR_429680.1:n.539dup
XM_017023870.1:c.128dup XP_016879359.1:p.Leu43PhefsTer5
XR_002957852.1:n.544dup
XR_429680.2:n.544dup
NM_153603.4:c.323dup MANE Select NP_705831.1:p.Leu108PhefsTer5
Search 100 bp 5'
Search 100 bp 3'