Canonical Allele Identifier: CA600437018

Gene: GAB2

Linked Data

• dbSNP Id: rs1173156170
• gnomAD v2: 11-78091074-GA-G
• gnomAD v3: 11-78380028-GA-G
• gnomAD v4: 11-78380028-GA-G
• MyVariant Identifiers: chr11:g.78091075del (hg19) ; chr11:g.78380029del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78380029del , CM000673.2:g.78380029del	GRCh38
NC_000011.9:g.78091075del , CM000673.1:g.78091075del	GRCh37
NC_000011.8:g.77768723del	NCBI36
NG_016171.1:g.42794del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361507.5:c.75+37617del MANE Select	ENSP00000354952.4:n.75+37617del
ENST00000361507.4:c.75+37617del	ENSP00000354952.4:n.75+37617del
ENST00000526030.1:n.177+37617del
ENST00000528886.5:c.-40+38208del	ENSP00000433762.1:n.-40+38208del
ENST00000530915.1:c.-127-15926del	ENSP00000431868.1:n.-127-15926del
ENST00000534823.1:n.126+37617del
NM_080491.2:c.75+37617del	NP_536739.1:n.75+37617del
XM_006718753.1:c.-127-15926del	XP_006718816.1:n.-127-15926del
XM_006718753.2:c.-127-15926del	XP_006718816.1:n.-127-15926del
NM_080491.3:c.75+37617del MANE Select	NP_536739.1:n.75+37617del