Canonical Allele Identifier: CA621010701

Gene: ERCC4

Linked Data

• dbSNP Id: rs1232091049
• gnomAD v2: 16-14038364-AGT-A
• gnomAD v3: 16-13944507-AGT-A
• gnomAD v4: 16-13944507-AGT-A
• MyVariant Identifiers: chr16:g.14038365_14038366del (hg19) ; chr16:g.13944508_13944509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944508_13944509del , CM000678.2:g.13944508_13944509del	GRCh38
NC_000016.9:g.14038365_14038366del , CM000678.1:g.14038365_14038366del	GRCh37
NC_000016.8:g.13945866_13945867del	NCBI36
NG_011442.1:g.29352_29353del , LRG_463:g.29352_29353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2043-215_2043-214del	ENSP00000507912.1:n.2043-215_2043-214del
ENST00000683962.1:c.*1599-215_*1599-214del	ENSP00000506854.1:n.*1599-215_*1599-214del
ENST00000311895.8:c.1905-215_1905-214del MANE Select	ENSP00000310520.7:n.1905-215_1905-214del
ENST00000311895.7:c.1905-215_1905-214del	ENSP00000310520.7:n.1905-215_1905-214del
ENST00000389138.7:n.1182-215_1182-214del
ENST00000462862.1:c.218-215_218-214del	ENSP00000461322.1:n.218-215_218-214del
NM_005236.2:c.1905-215_1905-214del , LRG_463t1:c.1905-215_1905-214del	NP_005227.1:n.1905-215_1905-214del
XM_011522424.1:c.2043-215_2043-214del	XP_011520726.1:n.2043-215_2043-214del
XM_011522425.1:c.1362-215_1362-214del	XP_011520727.1:n.1362-215_1362-214del
XM_011522426.1:c.1116-215_1116-214del	XP_011520728.1:n.1116-215_1116-214del
XM_011522427.1:c.555-215_555-214del	XP_011520729.1:n.555-215_555-214del
XR_932805.1:n.2064-215_2064-214del
XM_011522424.3:c.2043-215_2043-214del	XP_011520726.1:n.2043-215_2043-214del
XM_017023043.2:c.1116-215_1116-214del	XP_016878532.1:n.1116-215_1116-214del
NM_005236.3:c.1905-215_1905-214del MANE Select	NP_005227.1:n.1905-215_1905-214del