Canonical Allele Identifier: CA2695213875

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126940_44126941insCTTTT , CM000673.2:g.44126940_44126941insCTTTT	GRCh38
NC_000011.9:g.44148490_44148491insCTTTT , CM000673.1:g.44148490_44148491insCTTTT	GRCh37
NC_000011.8:g.44105066_44105067insCTTTT	NCBI36
NG_007560.1:g.36392_36393insCTTTT , LRG_494:g.36392_36393insCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.1064_1065insCTTTT	ENSP00000342656.3:p.Leu356PhefsTer?
ENST00000395673.8:c.1064_1065insCTTTT	ENSP00000379032.4:p.Leu356PhefsTer?
ENST00000531161.6:n.1223_1224insCTTTT
ENST00000682359.1:c.939+1956_939+1957insCTTTT	ENSP00000508226.1:n.939+1956_939+1957insCTTTT
ENST00000682711.1:c.-544+31088_-544+31089insCTTTT	ENSP00000506803.1:n.-544+31088_-544+31089insCTTTT
ENST00000682815.1:c.1064_1065insCTTTT	ENSP00000507234.1:p.Leu356PhefsTer19
ENST00000682947.1:n.1238_1239insCTTTT
ENST00000682993.1:c.1064_1065insCTTTT	ENSP00000507580.1:p.Leu356PhefsTer?
ENST00000683000.1:c.1064_1065insCTTTT	ENSP00000508361.1:p.Leu356PhefsTer?
ENST00000683299.1:n.1481_1482insCTTTT
ENST00000683870.1:c.1064_1065insCTTTT	ENSP00000507922.1:p.Leu356PhefsTer19
ENST00000683881.1:n.3625_3626insCTTTT
ENST00000684039.1:c.1064_1065insCTTTT	ENSP00000507677.1:p.Leu356PhefsTer?
ENST00000684124.1:c.1064_1065insCTTTT	ENSP00000508332.1:p.Leu356PhefsTer?
ENST00000684533.1:c.744-3105_744-3104insCTTTT	ENSP00000507915.1:n.744-3105_744-3104insCTTTT
ENST00000533608.7:c.1064_1065insCTTTT MANE Select	ENSP00000431173.2:p.Leu356PhefsTer?
ENST00000343631.3:c.1064_1065insCTTTT	ENSP00000342656.3:p.Leu356PhefsTer?
ENST00000358681.8:c.1064_1065insCTTTT	ENSP00000351509.4:p.Leu356PhefsTer?
ENST00000395673.7:c.1163_1164insCTTTT	ENSP00000379032.3:p.Leu389PhefsTer?
ENST00000525559.1:n.38_39insCTTTT
ENST00000531161.5:n.241_242insCTTTT
ENST00000533608.5:c.1064_1065insCTTTT	ENSP00000431173.1:p.Leu356PhefsTer?
NM_000401.3:c.1163_1164insCTTTT , LRG_494t1:c.1163_1164insCTTTT	NP_000392.3:p.Leu389PhefsTer?
NM_001178083.1:c.1064_1065insCTTTT	NP_001171554.1:p.Leu356PhefsTer?
NM_207122.1:c.1064_1065insCTTTT , LRG_494t2:c.1064_1065insCTTTT	NP_997005.1:p.Leu356PhefsTer?
XM_011519950.1:c.1202_1203insCTTTT	XP_011518252.1:p.Leu402PhefsTer?
XM_011519951.1:c.1103_1104insCTTTT	XP_011518253.1:p.Leu369PhefsTer?
XM_024448383.1:c.1202_1203insCTTTT	XP_024304151.1:p.Leu402PhefsTer?
NM_001178083.2:c.1064_1065insCTTTT	NP_001171554.1:p.Leu356PhefsTer?
NM_207122.2:c.1064_1065insCTTTT MANE Select	NP_997005.1:p.Leu356PhefsTer?
NM_001178083.3:c.1064_1065insCTTTT	NP_001171554.1:p.Leu356PhefsTer?
NM_001389628.1:c.1064_1065insCTTTT	NP_001376557.1:p.Leu356PhefsTer?
NM_001389630.1:c.1064_1065insCTTTT	NP_001376559.1:p.Leu356PhefsTer?