Canonical Allele Identifier: CA2787930246

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493307_49493308insCAT , CM000672.2:g.49493307_49493308insCAT	GRCh38
NC_000010.10:g.50701353_50701354insCAT , CM000672.1:g.50701353_50701354insCAT	GRCh37
NC_000010.9:g.50371359_50371360insCAT	NCBI36
NG_009442.1:g.50794_50795insATG , LRG_465:g.50794_50795insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-56_1686-55insATG MANE Select	ENSP00000348089.5:n.1686-56_1686-55insATG
ENST00000681632.1:n.1764-56_1764-55insATG
ENST00000681659.1:c.1527-56_1527-55insATG	ENSP00000505631.1:n.1527-56_1527-55insATG
ENST00000355832.9:c.1686-56_1686-55insATG	ENSP00000348089.5:n.1686-56_1686-55insATG
ENST00000475116.1:n.275+7230_275+7231insATG
ENST00000623073.3:c.87-56_87-55insATG	ENSP00000485650.1:n.87-56_87-55insATG
ENST00000623115.3:c.-70+7230_-70+7231insATG	ENSP00000485321.1:n.-70+7230_-70+7231insATG
ENST00000623318.1:c.87-56_87-55insATG	ENSP00000485423.1:n.87-56_87-55insATG
NM_000124.3:c.1686-56_1686-55insATG	NP_000115.1:n.1686-56_1686-55insATG
NM_001346440.1:c.1686-56_1686-55insATG	NP_001333369.1:n.1686-56_1686-55insATG
NM_000124.4:c.1686-56_1686-55insATG MANE Select	NP_000115.1:n.1686-56_1686-55insATG
NM_001346440.2:c.1686-56_1686-55insATG	NP_001333369.1:n.1686-56_1686-55insATG