Canonical Allele Identifier: CA1908772326

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493085_49493086delinsCA , CM000672.2:g.49493085_49493086delinsCA	GRCh38
NC_000010.10:g.50701131_50701132delinsCA , CM000672.1:g.50701131_50701132delinsCA	GRCh37
NC_000010.9:g.50371137_50371138delinsCA	NCBI36
NG_009442.1:g.51016_51017delinsTG , LRG_465:g.51016_51017delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+31_1821+32delinsTG MANE Select	ENSP00000348089.5:n.1821+31_1821+32delins...
ENST00000681632.1:n.1899+31_1899+32delinsTG
ENST00000681659.1:c.1662+31_1662+32delinsTG	ENSP00000505631.1:n.1662+31_1662+32delins...
ENST00000355832.9:c.1821+31_1821+32delinsTG	ENSP00000348089.5:n.1821+31_1821+32delins...
ENST00000475116.1:n.275+7452_275+7453delinsTG
ENST00000623073.3:c.222+31_222+32delinsTG	ENSP00000485650.1:n.222+31_222+32delinsTG...
ENST00000623115.3:c.-70+7452_-70+7453delinsTG	ENSP00000485321.1:n.-70+7452_-70+7453deli...
ENST00000623318.1:c.222+31_222+32delinsTG	ENSP00000485423.1:n.222+31_222+32delinsTG...
NM_000124.3:c.1821+31_1821+32delinsTG	NP_000115.1:n.1821+31_1821+32delinsTG
NM_001346440.1:c.1821+31_1821+32delinsTG	NP_001333369.1:n.1821+31_1821+32delinsTG
NM_000124.4:c.1821+31_1821+32delinsTG MANE Select	NP_000115.1:n.1821+31_1821+32delinsTG
NM_001346440.2:c.1821+31_1821+32delinsTG	NP_001333369.1:n.1821+31_1821+32delinsTG