Canonical Allele Identifier: CA2787928507

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461657_49461659del , CM000672.2:g.49461657_49461659del	GRCh38
NC_000010.10:g.50669703_50669705del , CM000672.1:g.50669703_50669705del	GRCh37
NC_000010.9:g.50339709_50339711del	NCBI36
NG_009442.1:g.82443_82445del , LRG_465:g.82443_82445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-103_3779-101del MANE Select	ENSP00000348089.5:n.3779-103_3779-101del
ENST00000679552.1:n.850-103_850-101del
ENST00000679871.1:n.925-103_925-101del
ENST00000679974.1:n.828-103_828-101del
ENST00000681632.1:n.5182-103_5182-101del
ENST00000681659.1:c.3620-103_3620-101del	ENSP00000505631.1:n.3620-103_3620-101del
ENST00000355832.9:c.3779-103_3779-101del	ENSP00000348089.5:n.3779-103_3779-101del
ENST00000465653.1:n.101-103_101-101del
ENST00000623073.3:c.*2075-103_*2075-101del	ENSP00000485650.1:n.*2075-103_*2075-101del
ENST00000623115.3:c.1889-103_1889-101del	ENSP00000485321.1:n.1889-103_1889-101del
ENST00000624341.3:c.1611-103_1611-101del
NM_000124.3:c.3779-103_3779-101del	NP_000115.1:n.3779-103_3779-101del
XR_945953.1:n.243-9908_243-9906del
NM_001346440.1:c.3779-103_3779-101del	NP_001333369.1:n.3779-103_3779-101del
NM_000124.4:c.3779-103_3779-101del MANE Select	NP_000115.1:n.3779-103_3779-101del
NM_001346440.2:c.3779-103_3779-101del	NP_001333369.1:n.3779-103_3779-101del