Canonical Allele Identifier: CA2580081533

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2157535
• ClinVar RCV Id: RCV003079606

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493110_49493111delinsAC , CM000672.2:g.49493110_49493111delinsAC	GRCh38
NC_000010.10:g.50701156_50701157delinsAC , CM000672.1:g.50701156_50701157delinsAC	GRCh37
NC_000010.9:g.50371162_50371163delinsAC	NCBI36
NG_009442.1:g.50991_50992delinsGT , LRG_465:g.50991_50992delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+6_1821+7delinsGT MANE Select	ENSP00000348089.5:n.1821+6_1821+7delinsGT...
ENST00000681632.1:n.1899+6_1899+7delinsGT
ENST00000681659.1:c.1662+6_1662+7delinsGT	ENSP00000505631.1:n.1662+6_1662+7delinsGT...
ENST00000355832.9:c.1821+6_1821+7delinsGT	ENSP00000348089.5:n.1821+6_1821+7delinsGT...
ENST00000475116.1:n.275+7427_275+7428delinsGT
ENST00000623073.3:c.222+6_222+7delinsGT	ENSP00000485650.1:n.222+6_222+7delinsGT
ENST00000623115.3:c.-70+7427_-70+7428delinsGT	ENSP00000485321.1:n.-70+7427_-70+7428deli...
ENST00000623318.1:c.222+6_222+7delinsGT	ENSP00000485423.1:n.222+6_222+7delinsGT
NM_000124.3:c.1821+6_1821+7delinsGT	NP_000115.1:n.1821+6_1821+7delinsGT
NM_001346440.1:c.1821+6_1821+7delinsGT	NP_001333369.1:n.1821+6_1821+7delinsGT
NM_000124.4:c.1821+6_1821+7delinsGT MANE Select	NP_000115.1:n.1821+6_1821+7delinsGT
NM_001346440.2:c.1821+6_1821+7delinsGT	NP_001333369.1:n.1821+6_1821+7delinsGT