Canonical Allele Identifier: CA3260671201
Community Standard Title: NC_000016.10:g.13937861_13947615del
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13937861_13947615del , CM000678.2:g.13937861_13947615del GRCh38
NC_000016.9:g.14031718_14041472del , CM000678.1:g.14031718_14041472del GRCh37
NC_000016.8:g.13939219_13948973del NCBI36
NG_011442.1:g.22705_32459del , LRG_463:g.22705_32459del

Transcript Alleles

HGVS Amino-acid Change
NM_005236.2:c.1904+3_2019del , LRG_463t1:c.1904+3_2019del
NM_005236.3:c.1904+3_2019del
ENST00000311895.7:c.1904+3_2019del
ENST00000311895.8:c.1904+3_2019del
ENST00000389138.7:n.1181+3_1296del
ENST00000462862.1:c.95+3_332del
ENST00000682617.1:c.2042+3_2157del
ENST00000683962.1:c.*1598+3_*1713del
XM_011522424.1:c.2042+3_2157del
XM_011522424.3:c.2042+3_2157del
XM_011522425.1:c.1361+3_1476del
XM_011522426.1:c.1115+3_1230del
XM_011522427.1:c.554+3_669del
XM_017023043.2:c.1115+3_1230del
XR_932805.1:n.2063+3_2178del