Canonical Allele Identifier: CA928209245

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850743032
• gnomAD v3: 10-49469948-GAGTGGCCATA-G
• gnomAD v4: 10-49469948-GAGTGGCCATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49469952_49469961del , CM000672.2:g.49469952_49469961del	GRCh38
NC_000010.10:g.50677998_50678007del , CM000672.1:g.50677998_50678007del	GRCh37
NC_000010.9:g.50348004_50348013del	NCBI36
NG_009442.1:g.74144_74153del , LRG_465:g.74144_74153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+224_3778+233del MANE Select	ENSP00000348089.5:n.3778+224_3778+233del
ENST00000679552.1:n.849+224_849+233del
ENST00000679871.1:n.924+224_924+233del
ENST00000679974.1:n.827+224_827+233del
ENST00000681632.1:n.5181+224_5181+233del
ENST00000681659.1:c.3619+224_3619+233del	ENSP00000505631.1:n.3619+224_3619+233del
ENST00000355832.9:c.3778+224_3778+233del	ENSP00000348089.5:n.3778+224_3778+233del
ENST00000465653.1:n.100+224_100+233del
ENST00000623073.3:c.*2074+224_*2074+233del	ENSP00000485650.1:n.*2074+224_*2074+233del
ENST00000623115.3:c.1888+224_1888+233del	ENSP00000485321.1:n.1888+224_1888+233del
ENST00000624341.3:c.1610+224_1610+233del
NM_000124.3:c.3778+224_3778+233del	NP_000115.1:n.3778+224_3778+233del
XR_945953.1:n.243-1613_243-1604del
NM_001346440.1:c.3778+224_3778+233del	NP_001333369.1:n.3778+224_3778+233del
NM_000124.4:c.3778+224_3778+233del MANE Select	NP_000115.1:n.3778+224_3778+233del
NM_001346440.2:c.3778+224_3778+233del	NP_001333369.1:n.3778+224_3778+233del