Canonical Allele Identifier: CA718306243

Gene: ERCC4

Linked Data

• dbSNP Id: rs1230954687
• gnomAD v3: 16-13948229-CCCTG-C
• gnomAD v4: 16-13948229-CCCTG-C
• MyVariant Identifiers: chr16:g.14042087_14042090del (hg19) ; chr16:g.13948230_13948233del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948230_13948233del , CM000678.2:g.13948230_13948233del	GRCh38
NC_000016.9:g.14042087_14042090del , CM000678.1:g.14042087_14042090del	GRCh37
NC_000016.8:g.13949588_13949591del	NCBI36
NG_011442.1:g.33074_33077del , LRG_463:g.33074_33077del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2772_2775del	ENSP00000507912.1:p.Leu925HisfsTer?
ENST00000683962.1:c.*2328_*2331del	ENSP00000506854.1:n.*2328_*2331del
ENST00000311895.8:c.2634_2637del MANE Select	ENSP00000310520.7:p.Leu879HisfsTer?
ENST00000311895.7:c.2634_2637del	ENSP00000310520.7:p.Leu879HisfsTer?
ENST00000389138.7:n.1911_1914del
NM_005236.2:c.2634_2637del , LRG_463t1:c.2634_2637del	NP_005227.1:p.Leu879HisfsTer?
XM_011522424.1:c.2772_2775del	XP_011520726.1:p.Leu925HisfsTer?
XM_011522425.1:c.2091_2094del	XP_011520727.1:p.Leu698HisfsTer?
XM_011522426.1:c.1845_1848del	XP_011520728.1:p.Leu616HisfsTer?
XM_011522427.1:c.1284_1287del	XP_011520729.1:p.Leu429HisfsTer?
XR_932805.1:n.2793_2796del
XM_011522424.3:c.2772_2775del	XP_011520726.1:p.Leu925HisfsTer?
XM_017023043.2:c.1845_1848del	XP_016878532.1:p.Leu616HisfsTer?
NM_005236.3:c.2634_2637del MANE Select	NP_005227.1:p.Leu879HisfsTer?