Canonical Allele Identifier: CA1908773191

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493559_49493560delinsCT , CM000672.2:g.49493559_49493560delinsCT	GRCh38
NC_000010.10:g.50701605_50701606delinsCT , CM000672.1:g.50701605_50701606delinsCT	GRCh37
NC_000010.9:g.50371611_50371612delinsCT	NCBI36
NG_009442.1:g.50542_50543delinsAG , LRG_465:g.50542_50543delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-308_1686-307delinsAG MANE Select	ENSP00000348089.5:n.1686-308_1686-307delinsAG
ENST00000681632.1:n.1764-308_1764-307delinsAG
ENST00000681659.1:c.1527-308_1527-307delinsAG	ENSP00000505631.1:n.1527-308_1527-307delinsAG
ENST00000355832.9:c.1686-308_1686-307delinsAG	ENSP00000348089.5:n.1686-308_1686-307delinsAG
ENST00000475116.1:n.275+6978_275+6979delinsAG
ENST00000623073.3:c.87-308_87-307delinsAG	ENSP00000485650.1:n.87-308_87-307delinsAG
ENST00000623115.3:c.-70+6978_-70+6979delinsAG	ENSP00000485321.1:n.-70+6978_-70+6979delinsAG
ENST00000623318.1:c.87-308_87-307delinsAG	ENSP00000485423.1:n.87-308_87-307delinsAG
NM_000124.3:c.1686-308_1686-307delinsAG	NP_000115.1:n.1686-308_1686-307delinsAG
NM_001346440.1:c.1686-308_1686-307delinsAG	NP_001333369.1:n.1686-308_1686-307delinsAG
NM_000124.4:c.1686-308_1686-307delinsAG MANE Select	NP_000115.1:n.1686-308_1686-307delinsAG
NM_001346440.2:c.1686-308_1686-307delinsAG	NP_001333369.1:n.1686-308_1686-307delinsAG