Canonical Allele Identifier: CA2787928463

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461592_49461605del , CM000672.2:g.49461592_49461605del	GRCh38
NC_000010.10:g.50669638_50669651del , CM000672.1:g.50669638_50669651del	GRCh37
NC_000010.9:g.50339644_50339657del	NCBI36
NG_009442.1:g.82497_82510del , LRG_465:g.82497_82510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-49_3779-36del MANE Select	ENSP00000348089.5:n.3779-49_3779-36del
ENST00000679552.1:n.850-49_850-36del
ENST00000679871.1:n.925-49_925-36del
ENST00000679974.1:n.828-49_828-36del
ENST00000681632.1:n.5182-49_5182-36del
ENST00000681659.1:c.3620-49_3620-36del	ENSP00000505631.1:n.3620-49_3620-36del
ENST00000355832.9:c.3779-49_3779-36del	ENSP00000348089.5:n.3779-49_3779-36del
ENST00000465653.1:n.101-49_101-36del
ENST00000623073.3:c.*2075-49_*2075-36del	ENSP00000485650.1:n.*2075-49_*2075-36del
ENST00000623115.3:c.1889-49_1889-36del	ENSP00000485321.1:n.1889-49_1889-36del
ENST00000624341.3:c.1611-49_1611-36del
NM_000124.3:c.3779-49_3779-36del	NP_000115.1:n.3779-49_3779-36del
XR_945953.1:n.243-9973_243-9960del
NM_001346440.1:c.3779-49_3779-36del	NP_001333369.1:n.3779-49_3779-36del
NM_000124.4:c.3779-49_3779-36del MANE Select	NP_000115.1:n.3779-49_3779-36del
NM_001346440.2:c.3779-49_3779-36del	NP_001333369.1:n.3779-49_3779-36del