Canonical Allele Identifier: CA698012186
Gene: COG6 HGNC NCBI

Linked Data

dbSNP Id: rs1230883617
MyVariant Identifiers: chr13:g.40350696_40350728del (hg19) chr13:g.39776559_39776591del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39776564_39776596del , CM000675.2:g.39776564_39776596del GRCh38
NC_000013.10:g.40350701_40350733del , CM000675.1:g.40350701_40350733del GRCh37
NC_000013.9:g.39248701_39248733del NCBI36
NG_028352.1:g.125938_125970del

Transcript Alleles

HGVS Amino-acid Change
ENST00000416691.5:c.1827-11771_1827-11739del ENSP00000403733.1:n.1827-11771_1827-11739del
NM_001145079.1:c.1827-11771_1827-11739del NP_001138551.1:n.1827-11771_1827-11739del
NM_001145079.2:c.1827-11771_1827-11739del NP_001138551.1:n.1827-11771_1827-11739del
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