Canonical Allele Identifier: CA2693642859

Gene: WAS

Linked Data

• gnomAD v4: X-48684039-T-TCTCTTCCTTCTCTCTCTTCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48684042_48684043insTTCCTTCTCTCTCTTCCCCTC , CM000685.2:g.48684042_48684043insTTCCTTCTCTCTCTTCCCCTC	GRCh38
NC_000023.10:g.48542431_48542432insTTCCTTCTCTCTCTTCCCCTC , CM000685.1:g.48542431_48542432insTTCCTTCTCTCTCTTCCCCTC	GRCh37
NC_000023.9:g.48427375_48427376insTTCCTTCTCTCTCTTCCCCTC	NCBI36
NG_007877.1:g.5246_5247insTTCCTTCTCTCTCTTCCCCTC , LRG_125:g.5246_5247insTTCCTTCTCTCTCTTCCCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.165+57_165+58insTTCCTTCTCTCTCTTCCCCTC
ENST00000698625.1:c.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC	ENSP00000513844.1:n.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC
ENST00000698626.1:c.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC	ENSP00000513845.1:n.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC
ENST00000698635.1:c.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC	ENSP00000513850.1:n.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC
ENST00000376701.5:c.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC MANE Select	ENSP00000365891.4:n.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC
ENST00000376701.4:c.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC	ENSP00000365891.4:n.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC
ENST00000450772.5:c.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC	ENSP00000410537.1:n.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC
ENST00000465982.5:n.167+57_167+58insTTCCTTCTCTCTCTTCCCCTC
ENST00000483750.5:n.158+57_158+58insTTCCTTCTCTCTCTTCCCCTC
NM_000377.2:c.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC , LRG_125t1:c.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC	NP_000368.1:n.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC
XM_011543977.1:c.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC	XP_011542279.1:n.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC
XM_011543977.2:c.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC	XP_011542279.1:n.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC
XM_017029786.1:c.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC	XP_016885275.1:n.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC
NM_000377.3:c.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC MANE Select	NP_000368.1:n.132+57_132+58insTTCCTTCTCTCTCTTCCCCTC