Canonical Allele Identifier: CA2531253354
Gene: EXT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111700_118111701insTGGA , CM000670.2:g.118111700_118111701insTGGA GRCh38
NC_000008.10:g.119123939_119123940insTGGA , CM000670.1:g.119123939_119123940insTGGA GRCh37
NC_000008.9:g.119193120_119193121insTGGA NCBI36
NG_007455.2:g.5119_5120insTCCA , LRG_493:g.5119_5120insTCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-655_-654insTCCA MANE Select ENSP00000367446.3:n.-655_-654insTCCA
ENST00000378204.6:c.-655_-654insTCCA ENSP00000367446.2:n.-655_-654insTCCA
NM_000127.2:c.-655_-654insTCCA , LRG_493t1:c.-655_-654insTCCA NP_000118.2:n.-655_-654insTCCA
NM_000127.3:c.-655_-654insTCCA MANE Select NP_000118.2:n.-655_-654insTCCA
Search 100 bp 5'
Search 100 bp 3'