Canonical Allele Identifier: CA2697550116
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2696975
ClinVar RCV Id: RCV003498128

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807282_117807283del , CM000670.2:g.117807282_117807283del GRCh38
NC_000008.10:g.118819521_118819522del , CM000670.1:g.118819521_118819522del GRCh37
NC_000008.9:g.118888702_118888703del NCBI36
NG_007455.2:g.309539_309540del , LRG_493:g.309539_309540del

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.1286_1287del
ENST00000378204.7:c.1819_1820del MANE Select ENSP00000367446.3:p.Gly607IlefsTer?
ENST00000378204.6:c.1819_1820del ENSP00000367446.2:p.Gly607IlefsTer?
ENST00000437196.1:c.*710_*711del ENSP00000407299.1:n.*710_*711del
NM_000127.2:c.1819_1820del , LRG_493t1:c.1819_1820del NP_000118.2:p.Gly607IlefsTer?
NM_000127.3:c.1819_1820del MANE Select NP_000118.2:p.Gly607IlefsTer?