Canonical Allele Identifier: CA2746290240

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612647_158612652del , CM000663.2:g.158612647_158612652del	GRCh38
NC_000001.10:g.158582437_158582442del , CM000663.1:g.158582437_158582442del	GRCh37
NC_000001.9:g.156849061_156849066del	NCBI36
NG_011474.1:g.79065_79070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+165_7134+170del MANE Select	ENSP00000495214.1:n.7134+165_7134+170del
ENST00000368147.8:c.7134+165_7134+170del	ENSP00000357129.4:n.7134+165_7134+170del
ENST00000614909.4:c.7134+165_7134+170del	ENSP00000482595.1:n.7134+165_7134+170del
NM_003126.2:c.7134+165_7134+170del	NP_003117.2:n.7134+165_7134+170del
XM_011509916.1:c.7134+165_7134+170del	XP_011508218.1:n.7134+165_7134+170del
XM_011509917.1:c.7116+165_7116+170del	XP_011508219.1:n.7116+165_7116+170del
NM_003126.3:c.7134+165_7134+170del	NP_003117.2:n.7134+165_7134+170del
XM_011509916.2:c.7134+165_7134+170del	XP_011508218.1:n.7134+165_7134+170del
XM_011509917.3:c.7116+165_7116+170del	XP_011508219.1:n.7116+165_7116+170del
NM_003126.4:c.7134+165_7134+170del MANE Select	NP_003117.2:n.7134+165_7134+170del