Canonical Allele Identifier: CA666035971

Gene: ERCC6

Linked Data

• dbSNP Id: rs1469523529
• gnomAD v3: 10-49471182-TATAAAGCAATATAAGAGAGAGATG-T
• gnomAD v4: 10-49471182-TATAAAGCAATATAAGAGAGAGATG-T
• MyVariant Identifiers: chr10:g.50679229_50679252del (hg19) ; chr10:g.49471183_49471206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471187_49471210del , CM000672.2:g.49471187_49471210del	GRCh38
NC_000010.10:g.50679233_50679256del , CM000672.1:g.50679233_50679256del	GRCh37
NC_000010.9:g.50349239_50349262del	NCBI36
NG_009442.1:g.72896_72919del , LRG_465:g.72896_72919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2925-86_2925-63del MANE Select	ENSP00000348089.5:n.2925-86_2925-63del
ENST00000679552.1:n.141+305_142-294del
ENST00000679871.1:n.71-86_71-63del
ENST00000679974.1:n.119+305_120-294del
ENST00000681632.1:n.4328-86_4328-63del
ENST00000681659.1:c.2766-86_2766-63del	ENSP00000505631.1:n.2766-86_2766-63del
ENST00000355832.9:c.2925-86_2925-63del	ENSP00000348089.5:n.2925-86_2925-63del
ENST00000623073.3:c.*1221-86_*1221-63del	ENSP00000485650.1:n.*1221-86_*1221-63del
ENST00000623115.3:c.1035-86_1035-63del	ENSP00000485321.1:n.1035-86_1035-63del
ENST00000624341.3:c.757-86_757-63del
NM_000124.3:c.2925-86_2925-63del	NP_000115.1:n.2925-86_2925-63del
XR_945953.1:n.243-378_243-355del
NM_001346440.1:c.2925-86_2925-63del	NP_001333369.1:n.2925-86_2925-63del
NM_000124.4:c.2925-86_2925-63del MANE Select	NP_000115.1:n.2925-86_2925-63del
NM_001346440.2:c.2925-86_2925-63del	NP_001333369.1:n.2925-86_2925-63del