Canonical Allele Identifier: CA287011613

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs35225782
• MyVariant Identifiers: chr17:g.3384670_3384671insA (hg19) ; chr17:g.3481376_3481377insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3481376_3481377insA , CM000679.2:g.3481376_3481377insA	GRCh38
NC_000017.10:g.3384670_3384671insA , CM000679.1:g.3384670_3384671insA	GRCh37
NC_000017.9:g.3331420_3331421insA	NCBI36
NG_008399.1:g.12267_12268insA
NG_008399.2:g.12731_12732insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.237-227_237-226insA (ASPA) MANE Select	ENSP00000263080.2:n.237-227_237-226insA
ENST00000263080.2:c.237-227_237-226insA (ASPA)	ENSP00000263080.2:n.237-227_237-226insA
ENST00000456349.6:c.237-227_237-226insA (ASPA)	ENSP00000409976.2:n.237-227_237-226insA
ENST00000541913.5:c.-73-11979_-73-11978insT (SPATA22)	ENSP00000441920.1:n.-73-11979_-73-11978insT
ENST00000570318.1:c.-73-11979_-73-11978insT (SPATA22)	ENSP00000459147.1:n.-73-11979_-73-11978insT
ENST00000571278.1:c.142-227_142-226insA (ASPA)	ENSP00000461358.1:n.142-227_142-226insA
NM_000049.2:c.237-227_237-226insA (ASPA)	NP_000040.1:n.237-227_237-226insA
NM_001128085.1:c.237-227_237-226insA (ASPA)	NP_001121557.1:n.237-227_237-226insA
XM_005256829.1:c.-73-11979_-73-11978insT (SPATA22)	XP_005256886.1:n.-73-11979_-73-11978insT
XM_005256830.1:c.-73-11979_-73-11978insT (SPATA22)	XP_005256887.1:n.-73-11979_-73-11978insT
XM_006721527.2:c.237-227_237-226insA (ASPA)	XP_006721590.1:n.237-227_237-226insA
XR_934026.1:n.412-227_412-226insA (ASPA)
NM_001321336.1:c.-73-11979_-73-11978insT (SPATA22)	NP_001308265.1:n.-73-11979_-73-11978insT
NM_001321337.1:c.-73-11979_-73-11978insT (SPATA22)	NP_001308266.1:n.-73-11979_-73-11978insT
XM_017024661.1:c.237-227_237-226insA (ASPA)	XP_016880150.1:n.237-227_237-226insA
XM_024450764.1:c.237-227_237-226insA (ASPA)	XP_024306532.1:n.237-227_237-226insA
XR_934026.2:n.412-227_412-226insA (ASPA)
NM_000049.3:c.237-227_237-226insA (ASPA)	NP_000040.1:n.237-227_237-226insA
NM_000049.4:c.237-227_237-226insA (ASPA) MANE Select	NP_000040.1:n.237-227_237-226insA
NM_001321336.2:c.-73-11979_-73-11978insT (SPATA22)	NP_001308265.1:n.-73-11979_-73-11978insT
NM_001321337.2:c.-73-11979_-73-11978insT (SPATA22)	NP_001308266.1:n.-73-11979_-73-11978insT