Canonical Allele Identifier: CA2588690148

Gene: ERCC6

Linked Data

• gnomAD v3: 10-49492845-G-GAT
• gnomAD v4: 10-49492845-G-GAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492845_49492846insAT , CM000672.2:g.49492845_49492846insAT	GRCh38
NC_000010.10:g.50700891_50700892insAT , CM000672.1:g.50700891_50700892insAT	GRCh37
NC_000010.9:g.50370897_50370898insAT	NCBI36
NG_009442.1:g.51256_51257insAT , LRG_465:g.51256_51257insAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+271_1821+272insAT MANE Select	ENSP00000348089.5:n.1821+271_1821+272insAT
ENST00000681632.1:n.1899+271_1899+272insAT
ENST00000681659.1:c.1662+271_1662+272insAT	ENSP00000505631.1:n.1662+271_1662+272insAT
ENST00000355832.9:c.1821+271_1821+272insAT	ENSP00000348089.5:n.1821+271_1821+272insAT
ENST00000475116.1:n.275+7692_275+7693insAT
ENST00000623073.3:c.222+271_222+272insAT	ENSP00000485650.1:n.222+271_222+272insAT
ENST00000623115.3:c.-70+7692_-70+7693insAT	ENSP00000485321.1:n.-70+7692_-70+7693insAT
ENST00000623318.1:c.222+271_222+272insAT	ENSP00000485423.1:n.222+271_222+272insAT
NM_000124.3:c.1821+271_1821+272insAT	NP_000115.1:n.1821+271_1821+272insAT
NM_001346440.1:c.1821+271_1821+272insAT	NP_001333369.1:n.1821+271_1821+272insAT
NM_000124.4:c.1821+271_1821+272insAT MANE Select	NP_000115.1:n.1821+271_1821+272insAT
NM_001346440.2:c.1821+271_1821+272insAT	NP_001333369.1:n.1821+271_1821+272insAT