Canonical Allele Identifier: CA1908749727
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49471122_49471123delinsTA , CM000672.2:g.49471122_49471123delinsTA GRCh38
NC_000010.10:g.50679168_50679169delinsTA , CM000672.1:g.50679168_50679169delinsTA GRCh37
NC_000010.9:g.50349174_50349175delinsTA NCBI36
NG_009442.1:g.72979_72980delinsTA , LRG_465:g.72979_72980delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2925-3_2925-2delinsTA MANE Select ENSP00000348089.5:n.2925-3_2925-2delinsTA
ENST00000679552.1:n.142-234_142-233delinsTA
ENST00000679871.1:n.71-3_71-2delinsTA
ENST00000679974.1:n.120-234_120-233delinsTA
ENST00000681632.1:n.4328-3_4328-2delinsTA
ENST00000681659.1:c.2766-3_2766-2delinsTA ENSP00000505631.1:n.2766-3_2766-2delinsTA
ENST00000355832.9:c.2925-3_2925-2delinsTA ENSP00000348089.5:n.2925-3_2925-2delinsTA
ENST00000623073.3:c.*1221-3_*1221-2delinsTA ENSP00000485650.1:n.*1221-3_*1221-2delinsTA
ENST00000623115.3:c.1035-3_1035-2delinsTA ENSP00000485321.1:n.1035-3_1035-2delinsTA
ENST00000624341.3:c.757-3_757-2delinsTA
NM_000124.3:c.2925-3_2925-2delinsTA NP_000115.1:n.2925-3_2925-2delinsTA
XR_945953.1:n.243-443_243-442delinsTA
NM_001346440.1:c.2925-3_2925-2delinsTA NP_001333369.1:n.2925-3_2925-2delinsTA
NM_000124.4:c.2925-3_2925-2delinsTA MANE Select NP_000115.1:n.2925-3_2925-2delinsTA
NM_001346440.2:c.2925-3_2925-2delinsTA NP_001333369.1:n.2925-3_2925-2delinsTA