Canonical Allele Identifier: CA1813957421

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837206_117837211delinsAAAGAG , CM000670.2:g.117837206_117837211delinsAAAGAG	GRCh38
NC_000008.10:g.118849445_118849450delinsAAAGAG , CM000670.1:g.118849445_118849450delinsAAAGAG	GRCh37
NC_000008.9:g.118918626_118918631delinsAAAGAG	NCBI36
NG_007455.2:g.279609_279614delinsCTCTTT , LRG_493:g.279609_279614delinsCTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.430-10_430-5delinsCTCTTT
ENST00000378204.7:c.963-10_963-5delinsCTCTTT MANE Select	ENSP00000367446.3:n.963-10_963-5delinsCTCTTT
ENST00000436216.2:c.331-10_331-5delinsCTCTTT
ENST00000378204.6:c.963-10_963-5delinsCTCTTT	ENSP00000367446.2:n.963-10_963-5delinsCTCTTT
ENST00000436216.1:c.331-10_331-5delinsCTCTTT
ENST00000437196.1:c.74-1660_74-1655delinsCTCTTT	ENSP00000407299.1:n.74-1660_74-1655delinsCTCTTT
NM_000127.2:c.963-10_963-5delinsCTCTTT , LRG_493t1:c.963-10_963-5delinsCTCTTT	NP_000118.2:n.963-10_963-5delinsCTCTTT
NM_000127.3:c.963-10_963-5delinsCTCTTT MANE Select	NP_000118.2:n.963-10_963-5delinsCTCTTT