Canonical Allele Identifier: CA16617870
Gene: GLB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420844
ClinVar RCV Id: RCV000479288
dbSNP Id: rs1064794737
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33051866_33051895delinsGGCAAGTATATACTTGCCT , CM000665.2:g.33051866_33051895delinsGGCAAGTATATACTTGCCT GRCh38
NC_000003.11:g.33093358_33093387delinsGGCAAGTATATACTTGCCT , CM000665.1:g.33093358_33093387delinsGGCAAGTATATACTTGCCT GRCh37
NC_000003.10:g.33068362_33068391delinsGGCAAGTATATACTTGCCT NCBI36
NG_009005.1:g.50308_50337delinsAGGCAAGTATATACTTGCC

Transcript Alleles

HGVS Amino-acid change
ENST00000307363.10:c.902_914+17delinsAGGCAAGTATATACTTGCC
ENST00000307363.9:c.902_914+17delinsAGGCAAGTATATACTTGCC
ENST00000307377.12:c.509_521+17delinsAGGCAAGTATATACTTGCC
ENST00000399402.7:c.812_824+17delinsAGGCAAGTATATACTTGCC
ENST00000415454.1:c.425_437+17delinsAGGCAAGTATATACTTGCC
ENST00000482097.5:n.277_289+17delinsAGGCAAGTATATACTTGCC
ENST00000485698.5:n.305_317+17delinsAGGCAAGTATATACTTGCC
ENST00000498537.5:n.428_440+17delinsAGGCAAGTATATACTTGCC
NM_000404.2:c.902_914+17delinsAGGCAAGTATATACTTGCC
NM_000404.3:c.902_914+17delinsAGGCAAGTATATACTTGCC
NM_001079811.1:c.812_824+17delinsAGGCAAGTATATACTTGCC
NM_001079811.2:c.812_824+17delinsAGGCAAGTATATACTTGCC
NM_001135602.1:c.509_521+17delinsAGGCAAGTATATACTTGCC
NM_001135602.2:c.509_521+17delinsAGGCAAGTATATACTTGCC
NM_001317040.1:c.1046_1058+17delinsAGGCAAGTATATACTTGCC
NM_000404.4:c.902_914+17delinsAGGCAAGTATATACTTGCC
NM_001079811.3:c.812_824+17delinsAGGCAAGTATATACTTGCC
NM_001135602.3:c.509_521+17delinsAGGCAAGTATATACTTGCC
NM_001317040.2:c.1046_1058+17delinsAGGCAAGTATATACTTGCC
NM_001393580.1:c.902_914+17delinsAGGCAAGTATATACTTGCC
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