Canonical Allele Identifier: CA2787928468

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461601_49461602insCAT , CM000672.2:g.49461601_49461602insCAT	GRCh38
NC_000010.10:g.50669647_50669648insCAT , CM000672.1:g.50669647_50669648insCAT	GRCh37
NC_000010.9:g.50339653_50339654insCAT	NCBI36
NG_009442.1:g.82500_82501insATG , LRG_465:g.82500_82501insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-46_3779-45insATG MANE Select	ENSP00000348089.5:n.3779-46_3779-45insATG
ENST00000679552.1:n.850-46_850-45insATG
ENST00000679871.1:n.925-46_925-45insATG
ENST00000679974.1:n.828-46_828-45insATG
ENST00000681632.1:n.5182-46_5182-45insATG
ENST00000681659.1:c.3620-46_3620-45insATG	ENSP00000505631.1:n.3620-46_3620-45insATG
ENST00000355832.9:c.3779-46_3779-45insATG	ENSP00000348089.5:n.3779-46_3779-45insATG
ENST00000465653.1:n.101-46_101-45insATG
ENST00000623073.3:c.*2075-46_*2075-45insATG	ENSP00000485650.1:n.*2075-46_*2075-45insATG
ENST00000623115.3:c.1889-46_1889-45insATG	ENSP00000485321.1:n.1889-46_1889-45insATG
ENST00000624341.3:c.1611-46_1611-45insATG
NM_000124.3:c.3779-46_3779-45insATG	NP_000115.1:n.3779-46_3779-45insATG
XR_945953.1:n.243-9964_243-9963insCAT
NM_001346440.1:c.3779-46_3779-45insATG	NP_001333369.1:n.3779-46_3779-45insATG
NM_000124.4:c.3779-46_3779-45insATG MANE Select	NP_000115.1:n.3779-46_3779-45insATG
NM_001346440.2:c.3779-46_3779-45insATG	NP_001333369.1:n.3779-46_3779-45insATG