Canonical Allele Identifier: CA2609136203

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461649-AAAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461653_49461656del , CM000672.2:g.49461653_49461656del	GRCh38
NC_000010.10:g.50669699_50669702del , CM000672.1:g.50669699_50669702del	GRCh37
NC_000010.9:g.50339705_50339708del	NCBI36
NG_009442.1:g.82449_82452del , LRG_465:g.82449_82452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-97_3779-94del MANE Select	ENSP00000348089.5:n.3779-97_3779-94del
ENST00000679552.1:n.850-97_850-94del
ENST00000679871.1:n.925-97_925-94del
ENST00000679974.1:n.828-97_828-94del
ENST00000681632.1:n.5182-97_5182-94del
ENST00000681659.1:c.3620-97_3620-94del	ENSP00000505631.1:n.3620-97_3620-94del
ENST00000355832.9:c.3779-97_3779-94del	ENSP00000348089.5:n.3779-97_3779-94del
ENST00000465653.1:n.101-97_101-94del
ENST00000623073.3:c.*2075-97_*2075-94del	ENSP00000485650.1:n.*2075-97_*2075-94del
ENST00000623115.3:c.1889-97_1889-94del	ENSP00000485321.1:n.1889-97_1889-94del
ENST00000624341.3:c.1611-97_1611-94del
NM_000124.3:c.3779-97_3779-94del	NP_000115.1:n.3779-97_3779-94del
XR_945953.1:n.243-9912_243-9909del
NM_001346440.1:c.3779-97_3779-94del	NP_001333369.1:n.3779-97_3779-94del
NM_000124.4:c.3779-97_3779-94del MANE Select	NP_000115.1:n.3779-97_3779-94del
NM_001346440.2:c.3779-97_3779-94del	NP_001333369.1:n.3779-97_3779-94del