Canonical Allele Identifier: CA4472350

Gene: GARIN1B

Linked Data

• dbSNP Id: rs755830974
• ExAC: 7:128363233 C / CT
• gnomAD v2: 7-128363233-C-CT
• gnomAD v3: 7-128723179-C-CT
• gnomAD v4: 7-128723179-C-CT
• MyVariant Identifiers: chr7:g.128363233_128363234insT (hg19) ; chr7:g.128723179_128723180insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723186dup , CM000669.2:g.128723186dup	GRCh38
NC_000007.13:g.128363240dup , CM000669.1:g.128363240dup	GRCh37
NC_000007.12:g.128150476dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621392.5:c.688-11dup MANE Select	ENSP00000477573.2:n.688-11dup
ENST00000315184.9:c.688-11dup	ENSP00000326652.4:n.688-11dup
ENST00000466842.1:c.256-11dup	ENSP00000417930.1:n.256-11dup
ENST00000469348.5:n.547-11dup
ENST00000471558.5:c.688-11dup	ENSP00000418672.1:n.688-11dup
ENST00000484425.6:c.259-11dup	ENSP00000418591.2:n.259-11dup
ENST00000485070.5:c.391-11dup	ENSP00000418192.1:n.391-11dup
ENST00000493738.5:n.644-11dup
ENST00000621392.4:c.391-11dup	ENSP00000477573.1:n.391-11dup
NM_001282788.1:c.688-11dup	NP_001269717.1:n.688-11dup
NM_001282789.1:c.391-11dup	NP_001269718.1:n.391-11dup
NM_032599.3:c.688-11dup	NP_115988.1:n.688-11dup
NR_104242.1:n.788-11dup
NR_104243.1:n.677-11dup
XM_017012743.2:c.688-11dup	XP_016868232.1:n.688-11dup
XR_002956499.1:n.739-11dup
NM_001282788.2:c.688-11dup	NP_001269717.1:n.688-11dup
NM_001282789.2:c.391-11dup	NP_001269718.1:n.391-11dup
NM_032599.4:c.688-11dup	NP_115988.1:n.688-11dup
NR_104242.2:n.739-11dup
NR_104243.2:n.677-11dup
NM_001282788.3:c.688-11dup MANE Select	NP_001269717.1:n.688-11dup