Canonical Allele Identifier: CA2209081381

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944674_13944681delinsAGAATTTT , CM000678.2:g.13944674_13944681delinsAGAATTTT	GRCh38
NC_000016.9:g.14038531_14038538delinsAGAATTTT , CM000678.1:g.14038531_14038538delinsAGAATTTT	GRCh37
NC_000016.8:g.13946032_13946039delinsAGAATTTT	NCBI36
NG_011442.1:g.29518_29525delinsAGAATTTT , LRG_463:g.29518_29525delinsAGAATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2043-49_2043-42delinsAGAATTTT	ENSP00000507912.1:n.2043-49_2043-42delinsAGAATTTT
ENST00000683962.1:c.*1599-49_*1599-42delinsAGAATTTT	ENSP00000506854.1:n.*1599-49_*1599-42delinsAGAATTTT
ENST00000311895.8:c.1905-49_1905-42delinsAGAATTTT MANE Select	ENSP00000310520.7:n.1905-49_1905-42delinsAGAATTTT
ENST00000311895.7:c.1905-49_1905-42delinsAGAATTTT	ENSP00000310520.7:n.1905-49_1905-42delinsAGAATTTT
ENST00000389138.7:n.1182-49_1182-42delinsAGAATTTT
ENST00000462862.1:c.218-49_218-42delinsAGAATTTT	ENSP00000461322.1:n.218-49_218-42delinsAGAATTTT
NM_005236.2:c.1905-49_1905-42delinsAGAATTTT , LRG_463t1:c.1905-49_1905-42delinsAGAATTTT	NP_005227.1:n.1905-49_1905-42delinsAGAATTTT
XM_011522424.1:c.2043-49_2043-42delinsAGAATTTT	XP_011520726.1:n.2043-49_2043-42delinsAGAATTTT
XM_011522425.1:c.1362-49_1362-42delinsAGAATTTT	XP_011520727.1:n.1362-49_1362-42delinsAGAATTTT
XM_011522426.1:c.1116-49_1116-42delinsAGAATTTT	XP_011520728.1:n.1116-49_1116-42delinsAGAATTTT
XM_011522427.1:c.555-49_555-42delinsAGAATTTT	XP_011520729.1:n.555-49_555-42delinsAGAATTTT
XR_932805.1:n.2064-49_2064-42delinsAGAATTTT
XM_011522424.3:c.2043-49_2043-42delinsAGAATTTT	XP_011520726.1:n.2043-49_2043-42delinsAGAATTTT
XM_017023043.2:c.1116-49_1116-42delinsAGAATTTT	XP_016878532.1:n.1116-49_1116-42delinsAGAATTTT
NM_005236.3:c.1905-49_1905-42delinsAGAATTTT MANE Select	NP_005227.1:n.1905-49_1905-42delinsAGAATTTT