Canonical Allele Identifier: CA1814090323

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111347_118111363delinsCAAGACGGAGGAAAAGA , CM000670.2:g.118111347_118111363delinsCAAGACGGAGGAAAAGA	GRCh38
NC_000008.10:g.119123586_119123602delinsCAAGACGGAGGAAAAGA , CM000670.1:g.119123586_119123602delinsCAAGACGGAGGAAAAGA	GRCh37
NC_000008.9:g.119192767_119192783delinsCAAGACGGAGGAAAAGA	NCBI36
NG_007455.2:g.5457_5473delinsTCTTTTCCTCCGTCTTG , LRG_493:g.5457_5473delinsTCTTTTCCTCCGTCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-317_-301delinsTCTTTTCCTCCGTCTTG MANE Select	ENSP00000367446.3:n.-317_-301delinsTCTTTTCCTCCGTCTTG
ENST00000378204.6:c.-317_-301delinsTCTTTTCCTCCGTCTTG	ENSP00000367446.2:n.-317_-301delinsTCTTTTCCTCCGTCTTG
NM_000127.2:c.-317_-301delinsTCTTTTCCTCCGTCTTG , LRG_493t1:c.-317_-301delinsTCTTTTCCTCCGTCTTG	NP_000118.2:n.-317_-301delinsTCTTTTCCTCCGTCTTG
NM_000127.3:c.-317_-301delinsTCTTTTCCTCCGTCTTG MANE Select	NP_000118.2:n.-317_-301delinsTCTTTTCCTCCGTCTTG