Canonical Allele Identifier: CA1742494468

Gene: GARIN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723128_128723131delinsCATG , CM000669.2:g.128723128_128723131delinsCATG	GRCh38
NC_000007.13:g.128363182_128363185delinsCATG , CM000669.1:g.128363182_128363185delinsCATG	GRCh37
NC_000007.12:g.128150418_128150421delinsCATG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621392.5:c.688-69_688-66delinsCATG MANE Select	ENSP00000477573.2:n.688-69_688-66delinsCATG
ENST00000315184.9:c.688-69_688-66delinsCATG	ENSP00000326652.4:n.688-69_688-66delinsCATG
ENST00000466842.1:c.256-69_256-66delinsCATG	ENSP00000417930.1:n.256-69_256-66delinsCATG
ENST00000469348.5:n.547-69_547-66delinsCATG
ENST00000471558.5:c.688-69_688-66delinsCATG	ENSP00000418672.1:n.688-69_688-66delinsCATG
ENST00000484425.6:c.259-69_259-66delinsCATG	ENSP00000418591.2:n.259-69_259-66delinsCATG
ENST00000485070.5:c.391-69_391-66delinsCATG	ENSP00000418192.1:n.391-69_391-66delinsCATG
ENST00000493738.5:n.644-69_644-66delinsCATG
ENST00000621392.4:c.391-69_391-66delinsCATG	ENSP00000477573.1:n.391-69_391-66delinsCATG
NM_001282788.1:c.688-69_688-66delinsCATG	NP_001269717.1:n.688-69_688-66delinsCATG
NM_001282789.1:c.391-69_391-66delinsCATG	NP_001269718.1:n.391-69_391-66delinsCATG
NM_032599.3:c.688-69_688-66delinsCATG	NP_115988.1:n.688-69_688-66delinsCATG
NR_104242.1:n.788-69_788-66delinsCATG
NR_104243.1:n.677-69_677-66delinsCATG
XM_017012743.2:c.688-69_688-66delinsCATG	XP_016868232.1:n.688-69_688-66delinsCATG
XR_002956499.1:n.739-69_739-66delinsCATG
NM_001282788.2:c.688-69_688-66delinsCATG	NP_001269717.1:n.688-69_688-66delinsCATG
NM_001282789.2:c.391-69_391-66delinsCATG	NP_001269718.1:n.391-69_391-66delinsCATG
NM_032599.4:c.688-69_688-66delinsCATG	NP_115988.1:n.688-69_688-66delinsCATG
NR_104242.2:n.739-69_739-66delinsCATG
NR_104243.2:n.677-69_677-66delinsCATG
NM_001282788.3:c.688-69_688-66delinsCATG MANE Select	NP_001269717.1:n.688-69_688-66delinsCATG