Canonical Allele Identifier: CA1908764353

Gene: ERCC6

Linked Data

• dbSNP Id: rs1837267988

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524673_49524674insTACCCTG , CM000672.2:g.49524673_49524674insTACCCTG	GRCh38
NC_000010.10:g.50732719_50732720insTACCCTG , CM000672.1:g.50732719_50732720insTACCCTG	GRCh37
NC_000010.9:g.50402725_50402726insTACCCTG	NCBI36
NG_009442.1:g.19429_19430insAGGGTAC , LRG_465:g.19429_19430insAGGGTAC
NG_033155.1:g.4609_4610insAGGGTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.757_758insAGGGTAC MANE Select	ENSP00000348089.5:p.Pro253GlnfsTer16
ENST00000447839.7:c.757_758insAGGGTAC MANE Plus Clinical	ENSP00000387966.2:p.Pro253GlnfsTer16
ENST00000679596.1:c.*386_*387insAGGGTAC	ENSP00000504862.1:n.*386_*387insAGGGTAC
ENST00000679811.1:n.840_841insAGGGTAC
ENST00000680107.1:c.652+3744_652+3745insAGGGTAC	ENSP00000505909.1:n.652+3744_652+3745insAGGGTAC
ENST00000680233.1:n.850_851insAGGGTAC
ENST00000681632.1:n.835_836insAGGGTAC
ENST00000681659.1:c.757_758insAGGGTAC	ENSP00000505631.1:p.Pro253GlnfsTer16
ENST00000355832.9:c.757_758insAGGGTAC	ENSP00000348089.5:p.Pro253GlnfsTer16
ENST00000447839.6:c.757_758insAGGGTAC	ENSP00000387966.2:p.Pro253GlnfsTer16
ENST00000515869.1:c.757_758insAGGGTAC	ENSP00000423550.1:p.Pro253GlnfsTer16
NM_000124.3:c.757_758insAGGGTAC	NP_000115.1:p.Pro253GlnfsTer16
NM_001277058.1:c.757_758insAGGGTAC	NP_001263987.1:p.Pro253GlnfsTer16
NM_001277059.1:c.757_758insAGGGTAC	NP_001263988.1:p.Pro253GlnfsTer16
NM_001346440.1:c.757_758insAGGGTAC	NP_001333369.1:p.Pro253GlnfsTer16
NM_000124.4:c.757_758insAGGGTAC MANE Select	NP_000115.1:p.Pro253GlnfsTer16
NM_001277058.2:c.757_758insAGGGTAC MANE Plus Clinical	NP_001263987.1:p.Pro253GlnfsTer16
NM_001277059.2:c.757_758insAGGGTAC	NP_001263988.1:p.Pro253GlnfsTer16
NM_001346440.2:c.757_758insAGGGTAC	NP_001333369.1:p.Pro253GlnfsTer16