Canonical Allele Identifier: CA1908772984

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493383_49493384delinsTG , CM000672.2:g.49493383_49493384delinsTG	GRCh38
NC_000010.10:g.50701429_50701430delinsTG , CM000672.1:g.50701429_50701430delinsTG	GRCh37
NC_000010.9:g.50371435_50371436delinsTG	NCBI36
NG_009442.1:g.50718_50719delinsCA , LRG_465:g.50718_50719delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-132_1686-131delinsCA MANE Select	ENSP00000348089.5:n.1686-132_1686-131delinsCA
ENST00000681632.1:n.1764-132_1764-131delinsCA
ENST00000681659.1:c.1527-132_1527-131delinsCA	ENSP00000505631.1:n.1527-132_1527-131delinsCA
ENST00000355832.9:c.1686-132_1686-131delinsCA	ENSP00000348089.5:n.1686-132_1686-131delinsCA
ENST00000475116.1:n.275+7154_275+7155delinsCA
ENST00000623073.3:c.87-132_87-131delinsCA	ENSP00000485650.1:n.87-132_87-131delinsCA
ENST00000623115.3:c.-70+7154_-70+7155delinsCA	ENSP00000485321.1:n.-70+7154_-70+7155delinsCA
ENST00000623318.1:c.87-132_87-131delinsCA	ENSP00000485423.1:n.87-132_87-131delinsCA
NM_000124.3:c.1686-132_1686-131delinsCA	NP_000115.1:n.1686-132_1686-131delinsCA
NM_001346440.1:c.1686-132_1686-131delinsCA	NP_001333369.1:n.1686-132_1686-131delinsCA
NM_000124.4:c.1686-132_1686-131delinsCA MANE Select	NP_000115.1:n.1686-132_1686-131delinsCA
NM_001346440.2:c.1686-132_1686-131delinsCA	NP_001333369.1:n.1686-132_1686-131delinsCA