Canonical Allele Identifier: CA526260767

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• dbSNP Id: rs1455011560
• gnomAD v2: 1-150526243-G-GCACAGAGCCCCCCTCACC
• MyVariant Identifiers: chr1:g.150526243_150526244insCACAGAGCCCCCCTCACC (hg19) ; chr1:g.150553767_150553768insCACAGAGCCCCCCTCACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150553771_150553788dup , CM000663.2:g.150553771_150553788dup	GRCh38
NC_000001.10:g.150526247_150526264dup , CM000663.1:g.150526247_150526264dup	GRCh37
NC_000001.9:g.148792871_148792888dup	NCBI36
NG_012172.1:g.9350_9367dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000271643.9:c.780_797dup (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Thr266_His267insGluPr...
ENST00000674043.1:c.780_797dup (ADAMTSL4)	ENSP00000501295.1:p.Thr266_His267insGluPr...
ENST00000674058.1:c.780_797dup (ADAMTSL4)	ENSP00000501255.1:p.Thr266_His267insGluPr...
ENST00000271643.8:c.780_797dup (ADAMTSL4)	ENSP00000271643.4:p.Thr266_His267insGluPr...
ENST00000369038.6:c.780_797dup (ADAMTSL4)	ENSP00000358034.2:p.Thr266_His267insGluPr...
ENST00000369039.9:c.780_797dup (ADAMTSL4)	ENSP00000358035.5:p.Thr266_His267insGluPr...
ENST00000369041.9:c.780_797dup (ADAMTSL4)	ENSP00000358037.5:p.Thr266_His267insGluPr...
NM_001288607.1:c.780_797dup (ADAMTSL4)	NP_001275536.1:p.Thr266_His267insGluProPr...
NM_001288608.1:c.780_797dup (ADAMTSL4)	NP_001275537.1:p.Thr266_His267insGluProPr...
NM_019032.5:c.780_797dup (ADAMTSL4)	NP_061905.2:p.Thr266_His267insGluProProSe...
NM_025008.4:c.780_797dup (ADAMTSL4)	NP_079284.2:p.Thr266_His267insGluProProSe...
XM_011509644.1:c.879_896dup (ADAMTSL4)	XP_011507946.1:p.Thr299_His300insGluProPr...
XM_011509645.1:c.879_896dup (ADAMTSL4)	XP_011507947.1:p.Thr299_His300insGluProPr...
XM_011509646.1:c.780_797dup (ADAMTSL4)	XP_011507948.1:p.Thr266_His267insGluProPr...
XM_011509647.1:c.780_797dup (ADAMTSL4)	XP_011507949.1:p.Thr266_His267insGluProPr...
XM_011509648.1:c.780_797dup (ADAMTSL4)	XP_011507950.1:p.Thr266_His267insGluProPr...
XM_011509649.1:c.879_896dup (ADAMTSL4)	XP_011507951.1:p.Thr299_His300insGluProPr...
XM_011509650.1:c.879_896dup (ADAMTSL4)	XP_011507952.1:p.Thr299_His300insGluProPr...
XR_921844.1:n.1064_1081dup (ADAMTSL4)
XR_922132.1:n.370+750_370+767dup (ADAMTSL4-AS2)
XR_922133.1:n.417+750_417+767dup (ADAMTSL4-AS2)
XM_011509644.3:c.879_896dup (ADAMTSL4)	XP_011507946.1:p.Thr299_His300insGluProPr...
XM_011509645.3:c.879_896dup (ADAMTSL4)	XP_011507947.1:p.Thr299_His300insGluProPr...
XM_011509648.3:c.780_797dup (ADAMTSL4)	XP_011507950.1:p.Thr266_His267insGluProPr...
XM_011509649.3:c.879_896dup (ADAMTSL4)	XP_011507951.1:p.Thr299_His300insGluProPr...
XM_011509650.3:c.879_896dup (ADAMTSL4)	XP_011507952.1:p.Thr299_His300insGluProPr...
XM_017001506.2:c.780_797dup (ADAMTSL4)	XP_016856995.1:p.Thr266_His267insGluProPr...
XR_001737242.2:n.1037_1054dup (ADAMTSL4)
XR_001738226.1:n.466+750_466+767dup (ADAMTSL4-AS2)
XR_001738227.1:n.466+750_466+767dup (ADAMTSL4-AS2)
XR_001738228.1:n.371+750_371+767dup (ADAMTSL4-AS2)
XR_001738229.1:n.357+2169_357+2186dup (ADAMTSL4-AS2)
XR_921844.3:n.1037_1054dup (ADAMTSL4)
NM_001288607.2:c.780_797dup (ADAMTSL4)	NP_001275536.1:p.Thr266_His267insGluProPr...
NM_025008.5:c.780_797dup (ADAMTSL4)	NP_079284.2:p.Thr266_His267insGluProProSe...
NM_001288608.2:c.780_797dup (ADAMTSL4)	NP_001275537.1:p.Thr266_His267insGluProPr...
NM_001378596.1:c.780_797dup (ADAMTSL4)	NP_001365525.1:p.Thr266_His267insGluProPr...
NM_019032.6:c.780_797dup (ADAMTSL4) MANE Select	NP_061905.2:p.Thr266_His267insGluProProSe...