Canonical Allele Identifier: CA2787928746

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470497_49470498insCAAAAG , CM000672.2:g.49470497_49470498insCAAAAG	GRCh38
NC_000010.10:g.50678543_50678544insCAAAAG , CM000672.1:g.50678543_50678544insCAAAAG	GRCh37
NC_000010.9:g.50348549_50348550insCAAAAG	NCBI36
NG_009442.1:g.73604_73605insCTTTTG , LRG_465:g.73604_73605insCTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3462_3463insCTTTTG MANE Select	ENSP00000348089.5:p.Ser1154_Tyr1155insLeuLeu
ENST00000679552.1:n.533_534insCTTTTG
ENST00000679871.1:n.608_609insCTTTTG
ENST00000679974.1:n.511_512insCTTTTG
ENST00000681632.1:n.4865_4866insCTTTTG
ENST00000681659.1:c.3303_3304insCTTTTG	ENSP00000505631.1:p.Ser1101_Tyr1102insLeuLeu
ENST00000355832.9:c.3462_3463insCTTTTG	ENSP00000348089.5:p.Ser1154_Tyr1155insLeuLeu
ENST00000623073.3:c.*1758_*1759insCTTTTG	ENSP00000485650.1:n.*1758_*1759insCTTTTG
ENST00000623115.3:c.1572_1573insCTTTTG	ENSP00000485321.1:p.Ser524_Tyr525insLeuLeu
ENST00000624341.3:c.1294_1295insCTTTTG
NM_000124.3:c.3462_3463insCTTTTG	NP_000115.1:p.Ser1154_Tyr1155insLeuLeu
XR_945953.1:n.243-1068_243-1067insCAAAAG
NM_001346440.1:c.3462_3463insCTTTTG	NP_001333369.1:p.Ser1154_Tyr1155insLeuLeu
NM_000124.4:c.3462_3463insCTTTTG MANE Select	NP_000115.1:p.Ser1154_Tyr1155insLeuLeu
NM_001346440.2:c.3462_3463insCTTTTG	NP_001333369.1:p.Ser1154_Tyr1155insLeuLeu