Canonical Allele Identifier: CA2609134306

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470991-TGTTTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470994_49470999del , CM000672.2:g.49470994_49470999del	GRCh38
NC_000010.10:g.50679040_50679045del , CM000672.1:g.50679040_50679045del	GRCh37
NC_000010.9:g.50349046_50349051del	NCBI36
NG_009442.1:g.73105_73110del , LRG_465:g.73105_73110del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3048_3053del MANE Select	ENSP00000348089.5:p.Glu1017_Thr1018del
ENST00000679552.1:n.142-108_142-103del
ENST00000679871.1:n.194_199del
ENST00000679974.1:n.120-108_120-103del
ENST00000681632.1:n.4451_4456del
ENST00000681659.1:c.2889_2894del	ENSP00000505631.1:p.Glu964_Thr965del
ENST00000355832.9:c.3048_3053del	ENSP00000348089.5:p.Glu1017_Thr1018del
ENST00000623073.3:c.*1344_*1349del	ENSP00000485650.1:n.*1344_*1349del
ENST00000623115.3:c.1158_1163del	ENSP00000485321.1:p.Glu387_Thr388del
ENST00000624341.3:c.880_885del
NM_000124.3:c.3048_3053del	NP_000115.1:p.Glu1017_Thr1018del
XR_945953.1:n.243-571_243-566del
NM_001346440.1:c.3048_3053del	NP_001333369.1:p.Glu1017_Thr1018del
NM_000124.4:c.3048_3053del MANE Select	NP_000115.1:p.Glu1017_Thr1018del
NM_001346440.2:c.3048_3053del	NP_001333369.1:p.Glu1017_Thr1018del