Canonical Allele Identifier: CA666041313
Gene: ERCC6 HGNC NCBI

Linked Data

dbSNP Id: rs1301802120

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493020_49493023del , CM000672.2:g.49493020_49493023del GRCh38
NC_000010.10:g.50701066_50701069del , CM000672.1:g.50701066_50701069del GRCh37
NC_000010.9:g.50371072_50371075del NCBI36
NG_009442.1:g.51079_51082del , LRG_465:g.51079_51082del

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1821+94_1821+97del MANE Select ENSP00000348089.5:n.1821+94_1821+97del
ENST00000681632.1:n.1899+94_1899+97del
ENST00000681659.1:c.1662+94_1662+97del ENSP00000505631.1:n.1662+94_1662+97del
ENST00000355832.9:c.1821+94_1821+97del ENSP00000348089.5:n.1821+94_1821+97del
ENST00000475116.1:n.275+7515_275+7518del
ENST00000623073.3:c.222+94_222+97del ENSP00000485650.1:n.222+94_222+97del
ENST00000623115.3:c.-70+7515_-70+7518del ENSP00000485321.1:n.-70+7515_-70+7518del
ENST00000623318.1:c.222+94_222+97del ENSP00000485423.1:n.222+94_222+97del
NM_000124.3:c.1821+94_1821+97del NP_000115.1:n.1821+94_1821+97del
NM_001346440.1:c.1821+94_1821+97del NP_001333369.1:n.1821+94_1821+97del
NM_000124.4:c.1821+94_1821+97del MANE Select NP_000115.1:n.1821+94_1821+97del
NM_001346440.2:c.1821+94_1821+97del NP_001333369.1:n.1821+94_1821+97del