Canonical Allele Identifier: CA2609136135

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461588-TCACTCTGTATGCAAGAAAGACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461590_49461611del , CM000672.2:g.49461590_49461611del	GRCh38
NC_000010.10:g.50669636_50669657del , CM000672.1:g.50669636_50669657del	GRCh37
NC_000010.9:g.50339642_50339663del	NCBI36
NG_009442.1:g.82492_82513del , LRG_465:g.82492_82513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-54_3779-33del MANE Select	ENSP00000348089.5:n.3779-54_3779-33del
ENST00000679552.1:n.850-54_850-33del
ENST00000679871.1:n.925-54_925-33del
ENST00000679974.1:n.828-54_828-33del
ENST00000681632.1:n.5182-54_5182-33del
ENST00000681659.1:c.3620-54_3620-33del	ENSP00000505631.1:n.3620-54_3620-33del
ENST00000355832.9:c.3779-54_3779-33del	ENSP00000348089.5:n.3779-54_3779-33del
ENST00000465653.1:n.101-54_101-33del
ENST00000623073.3:c.*2075-54_*2075-33del	ENSP00000485650.1:n.*2075-54_*2075-33del
ENST00000623115.3:c.1889-54_1889-33del	ENSP00000485321.1:n.1889-54_1889-33del
ENST00000624341.3:c.1611-54_1611-33del
NM_000124.3:c.3779-54_3779-33del	NP_000115.1:n.3779-54_3779-33del
XR_945953.1:n.243-9975_243-9954del
NM_001346440.1:c.3779-54_3779-33del	NP_001333369.1:n.3779-54_3779-33del
NM_000124.4:c.3779-54_3779-33del MANE Select	NP_000115.1:n.3779-54_3779-33del
NM_001346440.2:c.3779-54_3779-33del	NP_001333369.1:n.3779-54_3779-33del