Canonical Allele Identifier: CA2787928788

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471168_49471169insACTT , CM000672.2:g.49471168_49471169insACTT	GRCh38
NC_000010.10:g.50679214_50679215insACTT , CM000672.1:g.50679214_50679215insACTT	GRCh37
NC_000010.9:g.50349220_50349221insACTT	NCBI36
NG_009442.1:g.72933_72934insAAGT , LRG_465:g.72933_72934insAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2925-49_2925-48insAAGT MANE Select	ENSP00000348089.5:n.2925-49_2925-48insAAGT
ENST00000679552.1:n.142-280_142-279insAAGT
ENST00000679871.1:n.71-49_71-48insAAGT
ENST00000679974.1:n.120-280_120-279insAAGT
ENST00000681632.1:n.4328-49_4328-48insAAGT
ENST00000681659.1:c.2766-49_2766-48insAAGT	ENSP00000505631.1:n.2766-49_2766-48insAAGT
ENST00000355832.9:c.2925-49_2925-48insAAGT	ENSP00000348089.5:n.2925-49_2925-48insAAGT
ENST00000623073.3:c.*1221-49_*1221-48insAAGT	ENSP00000485650.1:n.*1221-49_*1221-48insAAGT
ENST00000623115.3:c.1035-49_1035-48insAAGT	ENSP00000485321.1:n.1035-49_1035-48insAAGT
ENST00000624341.3:c.757-49_757-48insAAGT
NM_000124.3:c.2925-49_2925-48insAAGT	NP_000115.1:n.2925-49_2925-48insAAGT
XR_945953.1:n.243-397_243-396insACTT
NM_001346440.1:c.2925-49_2925-48insAAGT	NP_001333369.1:n.2925-49_2925-48insAAGT
NM_000124.4:c.2925-49_2925-48insAAGT MANE Select	NP_000115.1:n.2925-49_2925-48insAAGT
NM_001346440.2:c.2925-49_2925-48insAAGT	NP_001333369.1:n.2925-49_2925-48insAAGT