Canonical Allele Identifier: CA1813956579

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835188_117835191delinsACTT , CM000670.2:g.117835188_117835191delinsACTT	GRCh38
NC_000008.10:g.118847427_118847430delinsACTT , CM000670.1:g.118847427_118847430delinsACTT	GRCh37
NC_000008.9:g.118916608_118916611delinsACTT	NCBI36
NG_007455.2:g.281629_281632delinsAAGT , LRG_493:g.281629_281632delinsAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.631+253_631+256delinsAAGT
ENST00000378204.7:c.1164+253_1164+256delinsAAGT MANE Select	ENSP00000367446.3:n.1164+253_1164+256delinsAAGT
ENST00000436216.2:c.532+253_532+256delinsAAGT
ENST00000378204.6:c.1164+253_1164+256delinsAAGT	ENSP00000367446.2:n.1164+253_1164+256delinsAAGT
ENST00000436216.1:c.532+253_532+256delinsAAGT
ENST00000437196.1:c.*55+253_*55+256delinsAAGT	ENSP00000407299.1:n.*55+253_*55+256delinsAAGT
NM_000127.2:c.1164+253_1164+256delinsAAGT , LRG_493t1:c.1164+253_1164+256delinsAAGT	NP_000118.2:n.1164+253_1164+256delinsAAGT
NM_000127.3:c.1164+253_1164+256delinsAAGT MANE Select	NP_000118.2:n.1164+253_1164+256delinsAAGT