Canonical Allele Identifier: CA1984668653
Gene: GAB2 HGNC NCBI

Linked Data

dbSNP Id: rs1856677270

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78379977_78379979del , CM000673.2:g.78379977_78379979del GRCh38
NC_000011.9:g.78091023_78091025del , CM000673.1:g.78091023_78091025del GRCh37
NC_000011.8:g.77768671_77768673del NCBI36
NG_016171.1:g.42848_42850del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361507.5:c.75+37671_75+37673del MANE Select ENSP00000354952.4:n.75+37671_75+37673del
ENST00000361507.4:c.75+37671_75+37673del ENSP00000354952.4:n.75+37671_75+37673del
ENST00000526030.1:n.177+37671_177+37673del
ENST00000528886.5:c.-40+38262_-40+38264del ENSP00000433762.1:n.-40+38262_-40+38264del
ENST00000530915.1:c.-127-15872_-127-15870del ENSP00000431868.1:n.-127-15872_-127-15870del
ENST00000534823.1:n.126+37671_126+37673del
NM_080491.2:c.75+37671_75+37673del NP_536739.1:n.75+37671_75+37673del
XM_006718753.1:c.-127-15872_-127-15870del XP_006718816.1:n.-127-15872_-127-15870del
XM_006718753.2:c.-127-15872_-127-15870del XP_006718816.1:n.-127-15872_-127-15870del
NM_080491.3:c.75+37671_75+37673del MANE Select NP_536739.1:n.75+37671_75+37673del