Canonical Allele Identifier: CA1908749532

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470709_49470710delinsGT , CM000672.2:g.49470709_49470710delinsGT	GRCh38
NC_000010.10:g.50678755_50678756delinsGT , CM000672.1:g.50678755_50678756delinsGT	GRCh37
NC_000010.9:g.50348761_50348762delinsGT	NCBI36
NG_009442.1:g.73392_73393delinsAC , LRG_465:g.73392_73393delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3250_3251delinsAC MANE Select	ENSP00000348089.5:p.Thr1084=
ENST00000679552.1:n.321_322delinsAC
ENST00000679871.1:n.396_397delinsAC
ENST00000679974.1:n.299_300delinsAC
ENST00000681632.1:n.4653_4654delinsAC
ENST00000681659.1:c.3091_3092delinsAC	ENSP00000505631.1:p.Thr1031=
ENST00000355832.9:c.3250_3251delinsAC	ENSP00000348089.5:p.Thr1084=
ENST00000623073.3:c.*1546_*1547delinsAC	ENSP00000485650.1:n.*1546_*1547delinsAC
ENST00000623115.3:c.1360_1361delinsAC	ENSP00000485321.1:p.Thr454=
ENST00000624341.3:c.1082_1083delinsAC
NM_000124.3:c.3250_3251delinsAC	NP_000115.1:p.Thr1084=
XR_945953.1:n.243-856_243-855delinsGT
NM_001346440.1:c.3250_3251delinsAC	NP_001333369.1:p.Thr1084=
NM_000124.4:c.3250_3251delinsAC MANE Select	NP_000115.1:p.Thr1084=
NM_001346440.2:c.3250_3251delinsAC	NP_001333369.1:p.Thr1084=