Canonical Allele Identifier: CA1908772243

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493020_49493022delinsAAT , CM000672.2:g.49493020_49493022delinsAAT	GRCh38
NC_000010.10:g.50701066_50701068delinsAAT , CM000672.1:g.50701066_50701068delinsAAT	GRCh37
NC_000010.9:g.50371072_50371074delinsAAT	NCBI36
NG_009442.1:g.51080_51082delinsATT , LRG_465:g.51080_51082delinsATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+95_1821+97delinsATT MANE Select	ENSP00000348089.5:n.1821+95_1821+97delins...
ENST00000681632.1:n.1899+95_1899+97delinsATT
ENST00000681659.1:c.1662+95_1662+97delinsATT	ENSP00000505631.1:n.1662+95_1662+97delins...
ENST00000355832.9:c.1821+95_1821+97delinsATT	ENSP00000348089.5:n.1821+95_1821+97delins...
ENST00000475116.1:n.275+7516_275+7518delinsATT
ENST00000623073.3:c.222+95_222+97delinsATT	ENSP00000485650.1:n.222+95_222+97delinsAT...
ENST00000623115.3:c.-70+7516_-70+7518delinsATT	ENSP00000485321.1:n.-70+7516_-70+7518deli...
ENST00000623318.1:c.222+95_222+97delinsATT	ENSP00000485423.1:n.222+95_222+97delinsAT...
NM_000124.3:c.1821+95_1821+97delinsATT	NP_000115.1:n.1821+95_1821+97delinsATT
NM_001346440.1:c.1821+95_1821+97delinsATT	NP_001333369.1:n.1821+95_1821+97delinsATT...
NM_000124.4:c.1821+95_1821+97delinsATT MANE Select	NP_000115.1:n.1821+95_1821+97delinsATT
NM_001346440.2:c.1821+95_1821+97delinsATT	NP_001333369.1:n.1821+95_1821+97delinsATT...