Canonical Allele Identifier: CA1967883476

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126827_44126829delinsCTG , CM000673.2:g.44126827_44126829delinsCTG	GRCh38
NC_000011.9:g.44148377_44148379delinsCTG , CM000673.1:g.44148377_44148379delinsCTG	GRCh37
NC_000011.8:g.44104953_44104955delinsCTG	NCBI36
NG_007560.1:g.36279_36281delinsCTG , LRG_494:g.36279_36281delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.951_953delinsCTG	ENSP00000342656.3:p.Phe317=
ENST00000395673.8:c.951_953delinsCTG	ENSP00000379032.4:p.Phe317=
ENST00000531161.6:n.1110_1112delinsCTG
ENST00000682359.1:c.939+1843_939+1845delinsCTG	ENSP00000508226.1:n.939+1843_939+1845delinsCTG
ENST00000682711.1:c.-544+30975_-544+30977delinsCTG	ENSP00000506803.1:n.-544+30975_-544+30977delinsCTG
ENST00000682815.1:c.951_953delinsCTG	ENSP00000507234.1:p.Phe317=
ENST00000682947.1:n.1125_1127delinsCTG
ENST00000682993.1:c.951_953delinsCTG	ENSP00000507580.1:p.Phe317=
ENST00000683000.1:c.951_953delinsCTG	ENSP00000508361.1:p.Phe317=
ENST00000683299.1:n.1368_1370delinsCTG
ENST00000683870.1:c.951_953delinsCTG	ENSP00000507922.1:p.Phe317=
ENST00000683881.1:n.3512_3514delinsCTG
ENST00000684039.1:c.951_953delinsCTG	ENSP00000507677.1:p.Phe317=
ENST00000684124.1:c.951_953delinsCTG	ENSP00000508332.1:p.Phe317=
ENST00000684533.1:c.744-3218_744-3216delinsCTG	ENSP00000507915.1:n.744-3218_744-3216delinsCTG
ENST00000533608.7:c.951_953delinsCTG MANE Select	ENSP00000431173.2:p.Phe317=
ENST00000343631.3:c.951_953delinsCTG	ENSP00000342656.3:p.Phe317=
ENST00000358681.8:c.951_953delinsCTG	ENSP00000351509.4:p.Phe317=
ENST00000395673.7:c.1050_1052delinsCTG	ENSP00000379032.3:p.Phe350=
ENST00000531161.5:n.128_130delinsCTG
ENST00000533608.5:c.951_953delinsCTG	ENSP00000431173.1:p.Phe317=
NM_000401.3:c.1050_1052delinsCTG , LRG_494t1:c.1050_1052delinsCTG	NP_000392.3:p.Phe350=
NM_001178083.1:c.951_953delinsCTG	NP_001171554.1:p.Phe317=
NM_207122.1:c.951_953delinsCTG , LRG_494t2:c.951_953delinsCTG	NP_997005.1:p.Phe317=
XM_011519950.1:c.1089_1091delinsCTG	XP_011518252.1:p.Phe363=
XM_011519951.1:c.990_992delinsCTG	XP_011518253.1:p.Phe330=
XM_024448383.1:c.1089_1091delinsCTG	XP_024304151.1:p.Phe363=
NM_001178083.2:c.951_953delinsCTG	NP_001171554.1:p.Phe317=
NM_207122.2:c.951_953delinsCTG MANE Select	NP_997005.1:p.Phe317=
NM_001178083.3:c.951_953delinsCTG	NP_001171554.1:p.Phe317=
NM_001389628.1:c.951_953delinsCTG	NP_001376557.1:p.Phe317=
NM_001389630.1:c.951_953delinsCTG	NP_001376559.1:p.Phe317=