Canonical Allele Identifier: CA5787490

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.722413_722415dup , CM000673.2:g.722413_722415dup	GRCh38
NC_000011.9:g.722413_722415dup , CM000673.1:g.722413_722415dup	GRCh37
NC_000011.8:g.712413_712415dup	NCBI36
NG_051601.1:g.22197_22199dup

Transcript Alleles

HGVS	Amino-acid Change
NM_022772.4:c.1072_1074dup MANE Select	NP_073609.2:p.Cys358_Ser359insCys
ENST00000318562.13:c.1072_1074dup MANE Select	ENSP00000320828.8:p.Cys358_Ser359insCys
NM_022772.3:c.1072_1074dup	NP_073609.2:p.Cys358_Ser359insCys
ENST00000318562.12:c.1072_1074dup	ENSP00000320828.8:p.Cys358_Ser359insCys
ENST00000524474.5:n.736_738dup
ENST00000526198.5:c.1120_1122dup	ENSP00000436230.1:p.Cys374_Ser375insCys
ENST00000526651.5:n.485_487dup
ENST00000526909.5:c.*1777_*1779dup	ENSP00000433173.1:n.*1777_*1779dup
ENST00000528770.5:c.415_417dup
ENST00000530452.6:c.330_332dup
ENST00000530636.5:c.1072_1074dup	ENSP00000436035.1:p.Cys358_Ser359insCys
ENST00000531393.5:n.488_490dup
ENST00000533256.5:c.1072_1074dup	ENSP00000435585.1:p.Cys358_Ser359insCys
ENST00000610855.4:c.-93_-91dup	ENSP00000480704.1:n.-93_-91dup
ENST00000614442.4:c.1120_1122dup	ENSP00000480201.1:p.Cys374_Ser375insCys
ENST00000650127.1:c.1072_1074dup	ENSP00000497389.1:p.Cys358_Ser359insCys
XM_017018131.1:c.1072_1074dup	XP_016873620.1:p.Cys358_Ser359insCys
XM_017018132.1:c.1072_1074dup	XP_016873621.1:p.Cys358_Ser359insCys