Canonical Allele Identifier: CA30071006

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• ClinVar Variation Id: 1263777
• ClinVar RCV Id: RCV001674771
• dbSNP Id: rs34379037
• gnomAD v2: 1-150529322-T-TAA
• gnomAD v3: 1-150556846-T-TAA
• gnomAD v4: 1-150556846-T-TAA
• MyVariant Identifiers: chr1:g.150529322_150529323insAA (hg19) ; chr1:g.150556846_150556847insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150556846_150556847insAA , CM000663.2:g.150556846_150556847insAA	GRCh38
NC_000001.10:g.150529322_150529323insAA , CM000663.1:g.150529322_150529323insAA	GRCh37
NC_000001.9:g.148795946_148795947insAA	NCBI36
NG_012172.1:g.12425_12426insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.1749+53_1749+54insAA (ADAMTSL4) MANE Select	ENSP00000271643.4:n.1749+53_1749+54insAA
ENST00000674043.1:c.1818+53_1818+54insAA (ADAMTSL4)	ENSP00000501295.1:n.1818+53_1818+54insAA
ENST00000674058.1:c.1818+53_1818+54insAA (ADAMTSL4)	ENSP00000501255.1:n.1818+53_1818+54insAA
ENST00000271643.8:c.1749+53_1749+54insAA (ADAMTSL4)	ENSP00000271643.4:n.1749+53_1749+54insAA
ENST00000369038.6:c.1749+53_1749+54insAA (ADAMTSL4)	ENSP00000358034.2:n.1749+53_1749+54insAA
ENST00000369039.9:c.1818+53_1818+54insAA (ADAMTSL4)	ENSP00000358035.5:n.1818+53_1818+54insAA
ENST00000369041.9:c.1749+53_1749+54insAA (ADAMTSL4)	ENSP00000358037.5:n.1749+53_1749+54insAA
ENST00000622417.4:c.363+53_363+54insAA (ADAMTSL4)	ENSP00000477897.1:n.363+53_363+54insAA
NM_001288607.1:c.1818+53_1818+54insAA (ADAMTSL4)	NP_001275536.1:n.1818+53_1818+54insAA
NM_001288608.1:c.1818+53_1818+54insAA (ADAMTSL4)	NP_001275537.1:n.1818+53_1818+54insAA
NM_019032.5:c.1749+53_1749+54insAA (ADAMTSL4)	NP_061905.2:n.1749+53_1749+54insAA
NM_025008.4:c.1749+53_1749+54insAA (ADAMTSL4)	NP_079284.2:n.1749+53_1749+54insAA
XM_011509644.1:c.1917+53_1917+54insAA (ADAMTSL4)	XP_011507946.1:n.1917+53_1917+54insAA
XM_011509645.1:c.1848+53_1848+54insAA (ADAMTSL4)	XP_011507947.1:n.1848+53_1848+54insAA
XM_011509646.1:c.1818+53_1818+54insAA (ADAMTSL4)	XP_011507948.1:n.1818+53_1818+54insAA
XM_011509647.1:c.1818+53_1818+54insAA (ADAMTSL4)	XP_011507949.1:n.1818+53_1818+54insAA
XM_011509648.1:c.1818+53_1818+54insAA (ADAMTSL4)	XP_011507950.1:n.1818+53_1818+54insAA
XM_011509649.1:c.1917+53_1917+54insAA (ADAMTSL4)	XP_011507951.1:n.1917+53_1917+54insAA
XM_011509650.1:c.1917+53_1917+54insAA (ADAMTSL4)	XP_011507952.1:n.1917+53_1917+54insAA
XM_011509651.1:c.426+53_426+54insAA (ADAMTSL4)	XP_011507953.1:n.426+53_426+54insAA
XM_011509652.1:c.426+53_426+54insAA (ADAMTSL4)	XP_011507954.1:n.426+53_426+54insAA
XR_921844.1:n.2102+53_2102+54insAA (ADAMTSL4)
XR_922133.1:n.140-630_140-629insTT (ADAMTSL4-AS2)
XM_011509644.3:c.1917+53_1917+54insAA (ADAMTSL4)	XP_011507946.1:n.1917+53_1917+54insAA
XM_011509645.3:c.1848+53_1848+54insAA (ADAMTSL4)	XP_011507947.1:n.1848+53_1848+54insAA
XM_011509648.3:c.1818+53_1818+54insAA (ADAMTSL4)	XP_011507950.1:n.1818+53_1818+54insAA
XM_011509649.3:c.1917+53_1917+54insAA (ADAMTSL4)	XP_011507951.1:n.1917+53_1917+54insAA
XM_011509650.3:c.1917+53_1917+54insAA (ADAMTSL4)	XP_011507952.1:n.1917+53_1917+54insAA
XM_011509651.2:c.426+53_426+54insAA (ADAMTSL4)	XP_011507953.1:n.426+53_426+54insAA
XM_011509652.2:c.426+53_426+54insAA (ADAMTSL4)	XP_011507954.1:n.426+53_426+54insAA
XM_017001506.2:c.1818+53_1818+54insAA (ADAMTSL4)	XP_016856995.1:n.1818+53_1818+54insAA
XM_017001507.1:c.163-93_163-92insAA (ADAMTSL4)	XP_016856996.1:n.163-93_163-92insAA
XR_001737242.2:n.1903-93_1903-92insAA (ADAMTSL4)
XR_921844.3:n.2075+53_2075+54insAA (ADAMTSL4)
NM_001288607.2:c.1818+53_1818+54insAA (ADAMTSL4)	NP_001275536.1:n.1818+53_1818+54insAA
NM_025008.5:c.1749+53_1749+54insAA (ADAMTSL4)	NP_079284.2:n.1749+53_1749+54insAA
NM_001288608.2:c.1818+53_1818+54insAA (ADAMTSL4)	NP_001275537.1:n.1818+53_1818+54insAA
NM_001378596.1:c.1749+53_1749+54insAA (ADAMTSL4)	NP_001365525.1:n.1749+53_1749+54insAA
NM_019032.6:c.1749+53_1749+54insAA (ADAMTSL4) MANE Select	NP_061905.2:n.1749+53_1749+54insAA