Canonical Allele Identifier: CA2647819006

Gene: ADAMTSL4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150560388G>T , CM000663.2:g.150560388G>T	GRCh38
NC_000001.10:g.150532864G>T , CM000663.1:g.150532864G>T	GRCh37
NC_000001.9:g.148799488G>T	NCBI36
NG_012172.1:g.15967G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019032.6:c.*192G>T MANE Select	NP_061905.2:n.*192G>T
ENST00000271643.9:c.*192G>T MANE Select	ENSP00000271643.4:n.*192G>T
NM_001288607.1:c.*192G>T	NP_001275536.1:n.*192G>T
NM_001288607.2:c.*192G>T	NP_001275536.1:n.*192G>T
NM_001288608.1:c.*192G>T	NP_001275537.1:n.*192G>T
NM_001288608.2:c.*192G>T	NP_001275537.1:n.*192G>T
NM_001378596.1:c.*192G>T	NP_001365525.1:n.*192G>T
NM_019032.5:c.*192G>T	NP_061905.2:n.*192G>T
ENST00000271643.8:c.*192G>T	ENSP00000271643.4:n.*192G>T
ENST00000369038.6:c.*192G>T	ENSP00000358034.2:n.*192G>T
ENST00000369039.9:c.*192G>T	ENSP00000358035.5:n.*192G>T
ENST00000489159.1:n.1254G>T
ENST00000622417.4:c.*721G>T	ENSP00000477897.1:n.*721G>T
ENST00000674043.1:c.*192G>T	ENSP00000501295.1:n.*192G>T
ENST00000674058.1:c.*192G>T	ENSP00000501255.1:n.*192G>T
XM_011509644.1:c.*192G>T	XP_011507946.1:n.*192G>T
XM_011509644.3:c.*192G>T	XP_011507946.1:n.*192G>T
XM_011509645.1:c.*192G>T	XP_011507947.1:n.*192G>T
XM_011509645.3:c.*192G>T	XP_011507947.1:n.*192G>T
XM_011509646.1:c.*192G>T	XP_011507948.1:n.*192G>T
XM_011509647.1:c.*192G>T	XP_011507949.1:n.*192G>T
XM_011509648.1:c.*192G>T	XP_011507950.1:n.*192G>T
XM_011509648.3:c.*192G>T	XP_011507950.1:n.*192G>T
XM_011509651.1:c.*192G>T	XP_011507953.1:n.*192G>T
XM_011509651.2:c.*192G>T	XP_011507953.1:n.*192G>T
XM_011509652.1:c.*192G>T	XP_011507954.1:n.*192G>T
XM_011509652.2:c.*192G>T	XP_011507954.1:n.*192G>T
XM_017001506.2:c.*192G>T	XP_016856995.1:n.*192G>T
XM_017001507.1:c.*192G>T	XP_016856996.1:n.*192G>T
XR_921844.1:n.3986G>T
XR_921844.3:n.3959G>T