Canonical Allele Identifier: CA2684801272

Gene: GARIN1B

Linked Data

• gnomAD v4: 7-128723249-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723249_128723250insC , CM000669.2:g.128723249_128723250insC	GRCh38
NC_000007.13:g.128363303_128363304insC , CM000669.1:g.128363303_128363304insC	GRCh37
NC_000007.12:g.128150539_128150540insC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000621392.5:c.740_741insC MANE Select	ENSP00000477573.2:p.Met248AsnfsTer7
ENST00000315184.9:c.740_741insC	ENSP00000326652.4:p.Met248AsnfsTer7
ENST00000466842.1:c.308_309insC	ENSP00000417930.1:p.Met104AsnfsTer7
ENST00000469348.5:n.599_600insC
ENST00000471558.5:c.740_741insC	ENSP00000418672.1:p.Met248AsnfsTer7
ENST00000484425.6:c.311_312insC	ENSP00000418591.2:p.Met105AsnfsTer7
ENST00000485070.5:c.443_444insC	ENSP00000418192.1:p.Met149AsnfsTer7
ENST00000493738.5:n.696_697insC
ENST00000621392.4:c.443_444insC	ENSP00000477573.1:p.Met149AsnfsTer7
NM_001282788.1:c.740_741insC	NP_001269717.1:p.Met248AsnfsTer7
NM_001282789.1:c.443_444insC	NP_001269718.1:p.Met149AsnfsTer7
NM_032599.3:c.740_741insC	NP_115988.1:p.Met248AsnfsTer7
NR_104242.1:n.840_841insC
NR_104243.1:n.729_730insC
XM_017012743.2:c.740_741insC	XP_016868232.1:p.Met248AsnfsTer7
XR_002956499.1:n.791_792insC
NM_001282788.2:c.740_741insC	NP_001269717.1:p.Met248AsnfsTer7
NM_001282789.2:c.443_444insC	NP_001269718.1:p.Met149AsnfsTer7
NM_032599.4:c.740_741insC	NP_115988.1:p.Met248AsnfsTer7
NR_104242.2:n.791_792insC
NR_104243.2:n.729_730insC
NM_001282788.3:c.740_741insC MANE Select	NP_001269717.1:p.Met248AsnfsTer7