Canonical Allele Identifier: CA928206312

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850574491
• gnomAD v3: 10-49461132-TCTC-T
• gnomAD v4: 10-49461132-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461135_49461137del , CM000672.2:g.49461135_49461137del	GRCh38
NC_000010.10:g.50669181_50669183del , CM000672.1:g.50669181_50669183del	GRCh37
NC_000010.9:g.50339187_50339189del	NCBI36
NG_009442.1:g.82967_82969del , LRG_465:g.82967_82969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3983+217_3983+219del MANE Select	ENSP00000348089.5:n.3983+217_3983+219del
ENST00000679552.1:n.1054+217_1054+219del
ENST00000679871.1:n.1129+217_1129+219del
ENST00000679974.1:n.1032+217_1032+219del
ENST00000681632.1:n.5386+217_5386+219del
ENST00000681659.1:c.3824+217_3824+219del	ENSP00000505631.1:n.3824+217_3824+219del
ENST00000355832.9:c.3983+217_3983+219del	ENSP00000348089.5:n.3983+217_3983+219del
ENST00000465653.1:n.305+217_305+219del
ENST00000623073.3:c.*2279+217_*2279+219del	ENSP00000485650.1:n.*2279+217_*2279+219del
ENST00000623115.3:c.2093+217_2093+219del	ENSP00000485321.1:n.2093+217_2093+219del
ENST00000624341.3:c.1815+217_1815+219del
NM_000124.3:c.3983+217_3983+219del	NP_000115.1:n.3983+217_3983+219del
XR_945953.1:n.243-10430_243-10428del
NM_001346440.1:c.3983+217_3983+219del	NP_001333369.1:n.3983+217_3983+219del
NM_000124.4:c.3983+217_3983+219del MANE Select	NP_000115.1:n.3983+217_3983+219del
NM_001346440.2:c.3983+217_3983+219del	NP_001333369.1:n.3983+217_3983+219del