Canonical Allele Identifier: CA225077876

Gene: GAB2

Linked Data

• dbSNP Id: rs533227663
• gnomAD v3: 11-78281998-TCA-T
• gnomAD v4: 11-78281998-TCA-T
• MyVariant Identifiers: chr11:g.77993045_77993046del (hg19) ; chr11:g.78281999_78282000del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78282001_78282002del , CM000673.2:g.78282001_78282002del	GRCh38
NC_000011.9:g.77993047_77993048del , CM000673.1:g.77993047_77993048del	GRCh37
NC_000011.8:g.77670695_77670696del	NCBI36
NG_016171.1:g.140823_140824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.76-1099_76-1098del MANE Select	ENSP00000354952.4:n.76-1099_76-1098del
ENST00000340149.6:c.-39-1099_-39-1098del	ENSP00000343959.2:n.-39-1099_-39-1098del
ENST00000361507.4:c.76-1099_76-1098del	ENSP00000354952.4:n.76-1099_76-1098del
ENST00000526030.1:n.255-1099_255-1098del
ENST00000528886.5:c.-39-1099_-39-1098del	ENSP00000433762.1:n.-39-1099_-39-1098del
ENST00000530915.1:c.-39-1099_-39-1098del	ENSP00000431868.1:n.-39-1099_-39-1098del
ENST00000534823.1:n.127-1099_127-1098del
NM_012296.3:c.-39-1099_-39-1098del	NP_036428.1:n.-39-1099_-39-1098del
NM_080491.2:c.76-1099_76-1098del	NP_536739.1:n.76-1099_76-1098del
XM_006718753.1:c.-39-1099_-39-1098del	XP_006718816.1:n.-39-1099_-39-1098del
XM_011545408.1:c.-341-1099_-341-1098del	XP_011543710.1:n.-341-1099_-341-1098del
XM_006718753.2:c.-39-1099_-39-1098del	XP_006718816.1:n.-39-1099_-39-1098del
XM_011545408.3:c.-341-1099_-341-1098del	XP_011543710.1:n.-341-1099_-341-1098del
XM_024448782.1:c.22-1099_22-1098del	XP_024304550.1:n.22-1099_22-1098del
NM_080491.3:c.76-1099_76-1098del MANE Select	NP_536739.1:n.76-1099_76-1098del
NM_012296.4:c.-39-1099_-39-1098del	NP_036428.1:n.-39-1099_-39-1098del