Canonical Allele Identifier: CA2631831598

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948606-GGATCAGGTAAAGTTCCTACAAGTGATTACAGAAGGTAGAAACTTTACCTGATCCTAACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948611_13948669del , CM000678.2:g.13948611_13948669del	GRCh38
NC_000016.9:g.14042468_14042526del , CM000678.1:g.14042468_14042526del	GRCh37
NC_000016.8:g.13949969_13950027del	NCBI36
NG_011442.1:g.33455_33513del , LRG_463:g.33455_33513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*264_*322del	ENSP00000507912.1:n.*264_*322del
ENST00000683962.1:c.*2709_*2767del	ENSP00000506854.1:n.*2709_*2767del
ENST00000311895.8:c.*264_*322del MANE Select	ENSP00000310520.7:n.*264_*322del
ENST00000311895.7:c.*264_*322del	ENSP00000310520.7:n.*264_*322del
NM_005236.2:c.*264_*322del , LRG_463t1:c.*264_*322del	NP_005227.1:n.*264_*322del
XM_011522424.1:c.*264_*322del	XP_011520726.1:n.*264_*322del
XM_011522425.1:c.*264_*322del	XP_011520727.1:n.*264_*322del
XM_011522426.1:c.*264_*322del	XP_011520728.1:n.*264_*322del
XM_011522427.1:c.*264_*322del	XP_011520729.1:n.*264_*322del
XR_932805.1:n.3074-102_3074-44del
XM_011522424.3:c.*264_*322del	XP_011520726.1:n.*264_*322del
XM_017023043.2:c.*264_*322del	XP_016878532.1:n.*264_*322del
NM_005236.3:c.*264_*322del MANE Select	NP_005227.1:n.*264_*322del