Canonical Allele Identifier: CA600437045

Gene: GAB2

Linked Data

• dbSNP Id: rs11428219
• gnomAD v2: 11-78091259-C-CTTT
• gnomAD v3: 11-78380213-C-CTTT
• gnomAD v4: 11-78380213-C-CTTT
• MyVariant Identifiers: chr11:g.78091263_78091264insTTT (hg19) ; chr11:g.78091259_78091260insTTT (hg19) ; chr11:g.78380217_78380218insTTT (hg38) ; chr11:g.78380213_78380214insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78380224_78380226dup , CM000673.2:g.78380224_78380226dup	GRCh38
NC_000011.9:g.78091270_78091272dup , CM000673.1:g.78091270_78091272dup	GRCh37
NC_000011.8:g.77768918_77768920dup	NCBI36
NG_016171.1:g.42607_42609dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.75+37430_75+37432dup MANE Select	ENSP00000354952.4:n.75+37430_75+37432dup
ENST00000361507.4:c.75+37430_75+37432dup	ENSP00000354952.4:n.75+37430_75+37432dup
ENST00000526030.1:n.177+37430_177+37432dup
ENST00000528886.5:c.-40+38021_-40+38023dup	ENSP00000433762.1:n.-40+38021_-40+38023dup
ENST00000530915.1:c.-127-16113_-127-16111dup	ENSP00000431868.1:n.-127-16113_-127-16111dup
ENST00000534823.1:n.126+37430_126+37432dup
NM_080491.2:c.75+37430_75+37432dup	NP_536739.1:n.75+37430_75+37432dup
XM_006718753.1:c.-127-16113_-127-16111dup	XP_006718816.1:n.-127-16113_-127-16111dup
XM_006718753.2:c.-127-16113_-127-16111dup	XP_006718816.1:n.-127-16113_-127-16111dup
NM_080491.3:c.75+37430_75+37432dup MANE Select	NP_536739.1:n.75+37430_75+37432dup