Canonical Allele Identifier: CA2503443494
Gene: GARIN1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128723165_128723179del , CM000669.2:g.128723165_128723179del GRCh38
NC_000007.13:g.128363219_128363233del , CM000669.1:g.128363219_128363233del GRCh37
NC_000007.12:g.128150455_128150469del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000621392.5:c.688-32_688-18del MANE Select ENSP00000477573.2:n.688-32_688-18del
ENST00000315184.9:c.688-32_688-18del ENSP00000326652.4:n.688-32_688-18del
ENST00000466842.1:c.256-32_256-18del ENSP00000417930.1:n.256-32_256-18del
ENST00000469348.5:n.547-32_547-18del
ENST00000471558.5:c.688-32_688-18del ENSP00000418672.1:n.688-32_688-18del
ENST00000484425.6:c.259-32_259-18del ENSP00000418591.2:n.259-32_259-18del
ENST00000485070.5:c.391-32_391-18del ENSP00000418192.1:n.391-32_391-18del
ENST00000493738.5:n.644-32_644-18del
ENST00000621392.4:c.391-32_391-18del ENSP00000477573.1:n.391-32_391-18del
NM_001282788.1:c.688-32_688-18del NP_001269717.1:n.688-32_688-18del
NM_001282789.1:c.391-32_391-18del NP_001269718.1:n.391-32_391-18del
NM_032599.3:c.688-32_688-18del NP_115988.1:n.688-32_688-18del
NR_104242.1:n.788-32_788-18del
NR_104243.1:n.677-32_677-18del
XM_017012743.2:c.688-32_688-18del XP_016868232.1:n.688-32_688-18del
XR_002956499.1:n.739-32_739-18del
NM_001282788.2:c.688-32_688-18del NP_001269717.1:n.688-32_688-18del
NM_001282789.2:c.391-32_391-18del NP_001269718.1:n.391-32_391-18del
NM_032599.4:c.688-32_688-18del NP_115988.1:n.688-32_688-18del
NR_104242.2:n.739-32_739-18del
NR_104243.2:n.677-32_677-18del
NM_001282788.3:c.688-32_688-18del MANE Select NP_001269717.1:n.688-32_688-18del