Canonical Allele Identifier: CA999569895

Gene: GALE

Linked Data

• dbSNP Id: rs1638960838
• gnomAD v3: 1-23796523-CCTT-C
• gnomAD v4: 1-23796523-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796526_23796528del , CM000663.2:g.23796526_23796528del	GRCh38
NC_000001.10:g.24123016_24123018del , CM000663.1:g.24123016_24123018del	GRCh37
NC_000001.9:g.23995603_23995605del	NCBI36
NG_007068.1:g.9279_9281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.856_858del MANE Select	ENSP00000483375.1:p.Lys286del
ENST00000374497.7:c.856_858del	ENSP00000363621.3:p.Lys286del
ENST00000418277.5:c.664_666del	ENSP00000414719.1:p.Lys222del
ENST00000429356.5:c.603+171_603+173del	ENSP00000398585.1:n.603+171_603+173del
ENST00000456977.5:c.153+171_153+173del	ENSP00000397045.1:n.153+171_153+173del
ENST00000459934.5:n.1084_1086del
ENST00000469556.1:n.360_362del
ENST00000481736.5:n.1260_1262del
ENST00000617979.4:c.856_858del	ENSP00000483375.1:p.Lys286del
NM_000403.3:c.856_858del	NP_000394.2:p.Lys286del
NM_001008216.1:c.856_858del	NP_001008217.1:p.Lys286del
NM_001127621.1:c.856_858del	NP_001121093.1:p.Lys286del
NM_001008216.2:c.856_858del MANE Select	NP_001008217.1:p.Lys286del
NM_000403.4:c.856_858del	NP_000394.2:p.Lys286del
NM_001127621.2:c.856_858del	NP_001121093.1:p.Lys286del