Canonical Allele Identifier: CA593367508

Gene: ERCC6

Linked Data

• dbSNP Id: rs1187059369
• gnomAD v2: 10-50701034-ATTAACT-A
• gnomAD v3: 10-49492988-ATTAACT-A
• gnomAD v4: 10-49492988-ATTAACT-A
• MyVariant Identifiers: chr10:g.50701035_50701040del (hg19) ; chr10:g.49492989_49492994del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492993_49492998del , CM000672.2:g.49492993_49492998del	GRCh38
NC_000010.10:g.50701039_50701044del , CM000672.1:g.50701039_50701044del	GRCh37
NC_000010.9:g.50371045_50371050del	NCBI36
NG_009442.1:g.51108_51113del , LRG_465:g.51108_51113del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+123_1821+128del MANE Select	ENSP00000348089.5:n.1821+123_1821+128del
ENST00000681632.1:n.1899+123_1899+128del
ENST00000681659.1:c.1662+123_1662+128del	ENSP00000505631.1:n.1662+123_1662+128del
ENST00000355832.9:c.1821+123_1821+128del	ENSP00000348089.5:n.1821+123_1821+128del
ENST00000475116.1:n.275+7544_275+7549del
ENST00000623073.3:c.222+123_222+128del	ENSP00000485650.1:n.222+123_222+128del
ENST00000623115.3:c.-70+7544_-70+7549del	ENSP00000485321.1:n.-70+7544_-70+7549del
ENST00000623318.1:c.222+123_222+128del	ENSP00000485423.1:n.222+123_222+128del
NM_000124.3:c.1821+123_1821+128del	NP_000115.1:n.1821+123_1821+128del
NM_001346440.1:c.1821+123_1821+128del	NP_001333369.1:n.1821+123_1821+128del
NM_000124.4:c.1821+123_1821+128del MANE Select	NP_000115.1:n.1821+123_1821+128del
NM_001346440.2:c.1821+123_1821+128del	NP_001333369.1:n.1821+123_1821+128del