Canonical Allele Identifier: CA2787930271

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493326_49493327del , CM000672.2:g.49493326_49493327del	GRCh38
NC_000010.10:g.50701372_50701373del , CM000672.1:g.50701372_50701373del	GRCh37
NC_000010.9:g.50371378_50371379del	NCBI36
NG_009442.1:g.50775_50776del , LRG_465:g.50775_50776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-75_1686-74del MANE Select	ENSP00000348089.5:n.1686-75_1686-74del
ENST00000681632.1:n.1764-75_1764-74del
ENST00000681659.1:c.1527-75_1527-74del	ENSP00000505631.1:n.1527-75_1527-74del
ENST00000355832.9:c.1686-75_1686-74del	ENSP00000348089.5:n.1686-75_1686-74del
ENST00000475116.1:n.275+7211_275+7212del
ENST00000623073.3:c.87-75_87-74del	ENSP00000485650.1:n.87-75_87-74del
ENST00000623115.3:c.-70+7211_-70+7212del	ENSP00000485321.1:n.-70+7211_-70+7212del
ENST00000623318.1:c.87-75_87-74del	ENSP00000485423.1:n.87-75_87-74del
NM_000124.3:c.1686-75_1686-74del	NP_000115.1:n.1686-75_1686-74del
NM_001346440.1:c.1686-75_1686-74del	NP_001333369.1:n.1686-75_1686-74del
NM_000124.4:c.1686-75_1686-74del MANE Select	NP_000115.1:n.1686-75_1686-74del
NM_001346440.2:c.1686-75_1686-74del	NP_001333369.1:n.1686-75_1686-74del