Canonical Allele Identifier: CA1908772421

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493116_49493117delinsCC , CM000672.2:g.49493116_49493117delinsCC	GRCh38
NC_000010.10:g.50701162_50701163delinsCC , CM000672.1:g.50701162_50701163delinsCC	GRCh37
NC_000010.9:g.50371168_50371169delinsCC	NCBI36
NG_009442.1:g.50985_50986delinsGG , LRG_465:g.50985_50986delinsGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821_1821+1delinsGG
ENST00000681632.1:n.1899_1899+1delinsGG
ENST00000681659.1:c.1662_1662+1delinsGG
ENST00000355832.9:c.1821_1821+1delinsGG
ENST00000475116.1:n.275+7421_275+7422delinsGG
ENST00000623073.3:c.222_222+1delinsGG
ENST00000623115.3:c.-70+7421_-70+7422delinsGG	ENSP00000485321.1:n.-70+7421_-70+7422deli...
ENST00000623318.1:c.222_222+1delinsGG
NM_000124.3:c.1821_1821+1delinsGG
NM_001346440.1:c.1821_1821+1delinsGG
NM_000124.4:c.1821_1821+1delinsGG
NM_001346440.2:c.1821_1821+1delinsGG