Canonical Allele Identifier: CA1908763985

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524518_49524519delinsAG , CM000672.2:g.49524518_49524519delinsAG	GRCh38
NC_000010.10:g.50732564_50732565delinsAG , CM000672.1:g.50732564_50732565delinsAG	GRCh37
NC_000010.9:g.50402570_50402571delinsAG	NCBI36
NG_009442.1:g.19583_19584delinsCT , LRG_465:g.19583_19584delinsCT
NG_033155.1:g.4763_4764delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.911_912delinsCT MANE Select	ENSP00000348089.5:p.Pro304=
ENST00000447839.7:c.911_912delinsCT MANE Plus Clinical	ENSP00000387966.2:p.Pro304=
ENST00000679596.1:c.*540_*541delinsCT	ENSP00000504862.1:n.*540_*541delinsCT
ENST00000679811.1:n.994_995delinsCT
ENST00000680107.1:c.652+3898_652+3899delinsCT	ENSP00000505909.1:n.652+3898_652+3899delinsCT
ENST00000680233.1:n.1004_1005delinsCT
ENST00000681632.1:n.989_990delinsCT
ENST00000681659.1:c.911_912delinsCT	ENSP00000505631.1:p.Pro304=
ENST00000355832.9:c.911_912delinsCT	ENSP00000348089.5:p.Pro304=
ENST00000447839.6:c.911_912delinsCT	ENSP00000387966.2:p.Pro304=
ENST00000515869.1:c.911_912delinsCT	ENSP00000423550.1:p.Pro304=
NM_000124.3:c.911_912delinsCT	NP_000115.1:p.Pro304=
NM_001277058.1:c.911_912delinsCT	NP_001263987.1:p.Pro304=
NM_001277059.1:c.911_912delinsCT	NP_001263988.1:p.Pro304=
NM_001346440.1:c.911_912delinsCT	NP_001333369.1:p.Pro304=
NM_000124.4:c.911_912delinsCT MANE Select	NP_000115.1:p.Pro304=
NM_001277058.2:c.911_912delinsCT MANE Plus Clinical	NP_001263987.1:p.Pro304=
NM_001277059.2:c.911_912delinsCT	NP_001263988.1:p.Pro304=
NM_001346440.2:c.911_912delinsCT	NP_001333369.1:p.Pro304=