Canonical Allele Identifier: CA2550248097

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49514795_49514796insCA , CM000672.2:g.49514795_49514796insCA	GRCh38
NC_000010.10:g.50722841_50722842insCA , CM000672.1:g.50722841_50722842insCA	GRCh37
NC_000010.9:g.50392847_50392848insCA	NCBI36
NG_009442.1:g.29306_29307insTG , LRG_465:g.29306_29307insTG
NG_033155.1:g.14486_14487insTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1398-8784_1398-8783insTG MANE Select	ENSP00000348089.5:n.1398-8784_1398-8783in...
ENST00000679811.1:n.1481-8784_1481-8783insTG
ENST00000680107.1:c.*2303_*2304insTG	ENSP00000505909.1:n.*2303_*2304insTG
ENST00000681632.1:n.1476-8784_1476-8783insTG
ENST00000681659.1:c.1398-8784_1398-8783insTG	ENSP00000505631.1:n.1398-8784_1398-8783in...
ENST00000355832.9:c.1398-8784_1398-8783insTG	ENSP00000348089.5:n.1398-8784_1398-8783in...
NM_000124.3:c.1398-8784_1398-8783insTG	NP_000115.1:n.1398-8784_1398-8783insTG
NM_001346440.1:c.1398-8784_1398-8783insTG	NP_001333369.1:n.1398-8784_1398-8783insTG...
NM_000124.4:c.1398-8784_1398-8783insTG MANE Select	NP_000115.1:n.1398-8784_1398-8783insTG
NM_001346440.2:c.1398-8784_1398-8783insTG	NP_001333369.1:n.1398-8784_1398-8783insTG...