Canonical Allele Identifier: CA1077945

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• dbSNP Id: rs774641039
• ExAC: 1:150525724 CAGG / C
• gnomAD v2: 1-150525724-CAGG-C
• gnomAD v3: 1-150553248-CAGG-C
• gnomAD v4: 1-150553248-CAGG-C
• MyVariant Identifiers: chr1:g.150525725_150525727del (hg19) ; chr1:g.150553249_150553251del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150553252_150553254del , CM000663.2:g.150553252_150553254del	GRCh38
NC_000001.10:g.150525728_150525730del , CM000663.1:g.150525728_150525730del	GRCh37
NC_000001.9:g.148792352_148792354del	NCBI36
NG_012172.1:g.8831_8833del

Transcript Alleles

HGVS	Amino-acid change
ENST00000271643.9:c.433_434+1del (ADAMTSL4)
ENST00000674043.1:c.433_434+1del (ADAMTSL4)
ENST00000674058.1:c.433_434+1del (ADAMTSL4)
ENST00000271643.8:c.433_434+1del (ADAMTSL4)
ENST00000369038.6:c.433_434+1del (ADAMTSL4)
ENST00000369039.9:c.433_434+1del (ADAMTSL4)
ENST00000369041.9:c.433_434+1del (ADAMTSL4)
NM_001288607.1:c.433_434+1del (ADAMTSL4)
NM_001288608.1:c.433_434+1del (ADAMTSL4)
NM_019032.5:c.433_434+1del (ADAMTSL4)
NM_025008.4:c.433_434+1del (ADAMTSL4)
XM_011509644.1:c.532_533+1del (ADAMTSL4)
XM_011509645.1:c.532_533+1del (ADAMTSL4)
XM_011509646.1:c.433_434+1del (ADAMTSL4)
XM_011509647.1:c.433_434+1del (ADAMTSL4)
XM_011509648.1:c.433_434+1del (ADAMTSL4)
XM_011509649.1:c.532_533+1del (ADAMTSL4)
XM_011509650.1:c.532_533+1del (ADAMTSL4)
XR_921844.1:n.717_718+1del (ADAMTSL4)
XR_922132.1:n.370+1284_370+1286del (ADAMTSL4-AS2)
XR_922133.1:n.417+1284_417+1286del (ADAMTSL4-AS2)
XM_011509644.3:c.532_533+1del (ADAMTSL4)
XM_011509645.3:c.532_533+1del (ADAMTSL4)
XM_011509648.3:c.433_434+1del (ADAMTSL4)
XM_011509649.3:c.532_533+1del (ADAMTSL4)
XM_011509650.3:c.532_533+1del (ADAMTSL4)
XM_017001506.2:c.433_434+1del (ADAMTSL4)
XR_001737242.2:n.690_691+1del (ADAMTSL4)
XR_001738226.1:n.467-326_467-324del (ADAMTSL4-AS2)
XR_001738227.1:n.466+1284_466+1286del (ADAMTSL4-AS2)
XR_001738228.1:n.372-326_372-324del (ADAMTSL4-AS2)
XR_001738229.1:n.357+2703_357+2705del (ADAMTSL4-AS2)
XR_921844.3:n.690_691+1del (ADAMTSL4)
NM_001288607.2:c.433_434+1del (ADAMTSL4)
NM_025008.5:c.433_434+1del (ADAMTSL4)
NM_001288608.2:c.433_434+1del (ADAMTSL4)
NM_001378596.1:c.433_434+1del (ADAMTSL4)
NM_019032.6:c.433_434+1del (ADAMTSL4)