Canonical Allele Identifier: CA355415460

Gene: DVL3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184170317A>C , CM000665.2:g.184170317A>C	GRCh38
NC_000003.11:g.183888105A>C , CM000665.1:g.183888105A>C	GRCh37
NC_000003.10:g.185370799A>C	NCBI36
NG_046860.1:g.20007A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004423.4:c.1715-2A>C (DVL3) MANE Select	NP_004414.3:n.1715-2A>C
ENST00000313143.9:c.1715-2A>C (DVL3) MANE Select	ENSP00000316054.3:n.1715-2A>C
NM_004423.3:c.1715-2A>C (DVL3)	NP_004414.3:n.1715-2A>C
ENST00000313143.7:c.1715-2A>C (DVL3)	ENSP00000316054.3:n.1715-2A>C
ENST00000431765.5:c.1664-2A>C (DVL3)	ENSP00000405885.1:n.1664-2A>C
ENST00000431765.6:c.1664-2A>C (DVL3)	ENSP00000405885.1:n.1664-2A>C
ENST00000444495.1:c.2106+25610A>C (EIF2B5)	ENSP00000409142.1:n.2106+25610A>C
ENST00000478247.1:n.1715-2A>C (DVL3)
ENST00000649847.1:c.1041-2A>C (DVL3)	ENSP00000497654.1:n.1041-2A>C
XM_005247172.1:c.1715-2A>C (DVL3)	XP_005247229.1:n.1715-2A>C
XM_005247172.2:c.1715-2A>C (DVL3)	XP_005247229.1:n.1715-2A>C
XM_011512513.1:c.1211-2A>C (DVL3)	XP_011510815.1:n.1211-2A>C
XM_011512513.2:c.1211-2A>C (DVL3)	XP_011510815.1:n.1211-2A>C