Canonical Allele Identifier: CA2609139929

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49524507-ACTGGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524512_49524517del , CM000672.2:g.49524512_49524517del	GRCh38
NC_000010.10:g.50732558_50732563del , CM000672.1:g.50732558_50732563del	GRCh37
NC_000010.9:g.50402564_50402569del	NCBI36
NG_009442.1:g.19589_19594del , LRG_465:g.19589_19594del
NG_033155.1:g.4769_4774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.917_922del MANE Select	ENSP00000348089.5:p.Ala306_Pro307del
ENST00000447839.7:c.917_922del MANE Plus Clinical	ENSP00000387966.2:p.Ala306_Pro307del
ENST00000679596.1:c.*546_*551del	ENSP00000504862.1:n.*546_*551del
ENST00000679811.1:n.1000_1005del
ENST00000680107.1:c.652+3904_652+3909del	ENSP00000505909.1:n.652+3904_652+3909del
ENST00000680233.1:n.1010_1015del
ENST00000681632.1:n.995_1000del
ENST00000681659.1:c.917_922del	ENSP00000505631.1:p.Ala306_Pro307del
ENST00000355832.9:c.917_922del	ENSP00000348089.5:p.Ala306_Pro307del
ENST00000447839.6:c.917_922del	ENSP00000387966.2:p.Ala306_Pro307del
ENST00000515869.1:c.917_922del	ENSP00000423550.1:p.Ala306_Pro307del
NM_000124.3:c.917_922del	NP_000115.1:p.Ala306_Pro307del
NM_001277058.1:c.917_922del	NP_001263987.1:p.Ala306_Pro307del
NM_001277059.1:c.917_922del	NP_001263988.1:p.Ala306_Pro307del
NM_001346440.1:c.917_922del	NP_001333369.1:p.Ala306_Pro307del
NM_000124.4:c.917_922del MANE Select	NP_000115.1:p.Ala306_Pro307del
NM_001277058.2:c.917_922del MANE Plus Clinical	NP_001263987.1:p.Ala306_Pro307del
NM_001277059.2:c.917_922del	NP_001263988.1:p.Ala306_Pro307del
NM_001346440.2:c.917_922del	NP_001333369.1:p.Ala306_Pro307del