Canonical Allele Identifier: CA2209073059

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935452_13935455delinsAAGG , CM000678.2:g.13935452_13935455delinsAAGG	GRCh38
NC_000016.9:g.14029309_14029312delinsAAGG , CM000678.1:g.14029309_14029312delinsAAGG	GRCh37
NC_000016.8:g.13936810_13936813delinsAAGG	NCBI36
NG_011442.1:g.20296_20299delinsAAGG , LRG_463:g.20296_20299delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1598_1601delinsAAGG
ENST00000682617.1:c.1658_1661delinsAAGG	ENSP00000507912.1:p.Glu553=
ENST00000682826.1:c.*834_*837delinsAAGG	ENSP00000507274.1:n.*834_*837delinsAAGG
ENST00000682909.1:n.3560_3563delinsAAGG
ENST00000683277.1:n.3165_3168delinsAAGG
ENST00000683407.1:n.1528_1531delinsAAGG
ENST00000683962.1:c.*1214_*1217delinsAAGG	ENSP00000506854.1:n.*1214_*1217delinsAAGG
ENST00000311895.8:c.1520_1523delinsAAGG MANE Select	ENSP00000310520.7:p.Glu507=
ENST00000311895.7:c.1520_1523delinsAAGG	ENSP00000310520.7:p.Glu507=
ENST00000389138.7:n.797_800delinsAAGG
NM_005236.2:c.1520_1523delinsAAGG , LRG_463t1:c.1520_1523delinsAAGG	NP_005227.1:p.Glu507=
XM_011522424.1:c.1658_1661delinsAAGG	XP_011520726.1:p.Glu553=
XM_011522425.1:c.977_980delinsAAGG	XP_011520727.1:p.Glu326=
XM_011522426.1:c.731_734delinsAAGG	XP_011520728.1:p.Glu244=
XM_011522427.1:c.170_173delinsAAGG	XP_011520729.1:p.Glu57=
XR_932805.1:n.1679_1682delinsAAGG
XM_011522424.3:c.1658_1661delinsAAGG	XP_011520726.1:p.Glu553=
XM_017023043.2:c.731_734delinsAAGG	XP_016878532.1:p.Glu244=
NM_005236.3:c.1520_1523delinsAAGG MANE Select	NP_005227.1:p.Glu507=