Canonical Allele Identifier: CA2243897441

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499232_3499237delinsCTTAAA , CM000679.2:g.3499232_3499237delinsCTTAAA	GRCh38
NC_000017.10:g.3402526_3402531delinsCTTAAA , CM000679.1:g.3402526_3402531delinsCTTAAA	GRCh37
NC_000017.9:g.3349276_3349281delinsCTTAAA	NCBI36
NG_008399.1:g.30123_30128delinsCTTAAA
NG_008399.2:g.30587_30592delinsCTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*144_*149delinsCTTAAA (ASPA) MANE Select	ENSP00000263080.2:n.*144_*149delinsCTTAAA
ENST00000263080.2:c.*144_*149delinsCTTAAA (ASPA)	ENSP00000263080.2:n.*144_*149delinsCTTAAA
ENST00000541913.5:c.-74+14175_-74+14180delinsTTTAAG (SPATA22)	ENSP00000441920.1:n.-74+14175_-74+14180delinsTTTAAG
ENST00000570318.1:c.-74+14374_-74+14379delinsTTTAAG (SPATA22)	ENSP00000459147.1:n.-74+14374_-74+14379delinsTTTAAG
NM_000049.2:c.*144_*149delinsCTTAAA (ASPA)	NP_000040.1:n.*144_*149delinsCTTAAA
NM_001128085.1:c.*144_*149delinsCTTAAA (ASPA)	NP_001121557.1:n.*144_*149delinsCTTAAA
XM_005256829.1:c.-74+14175_-74+14180delinsTTTAAG (SPATA22)	XP_005256886.1:n.-74+14175_-74+14180delinsTTTAAG
XM_005256830.1:c.-74+14175_-74+14180delinsTTTAAG (SPATA22)	XP_005256887.1:n.-74+14175_-74+14180delinsTTTAAG
XM_006721527.2:c.*144_*149delinsCTTAAA (ASPA)	XP_006721590.1:n.*144_*149delinsCTTAAA
NM_001321336.1:c.-74+14175_-74+14180delinsTTTAAG (SPATA22)	NP_001308265.1:n.-74+14175_-74+14180delinsTTTAAG
NM_001321337.1:c.-74+14175_-74+14180delinsTTTAAG (SPATA22)	NP_001308266.1:n.-74+14175_-74+14180delinsTTTAAG
XM_017024661.1:c.*144_*149delinsCTTAAA (ASPA)	XP_016880150.1:n.*144_*149delinsCTTAAA
XM_024450764.1:c.*144_*149delinsCTTAAA (ASPA)	XP_024306532.1:n.*144_*149delinsCTTAAA
XR_934026.2:n.1353_1358delinsCTTAAA (ASPA)
NM_000049.3:c.*144_*149delinsCTTAAA (ASPA)	NP_000040.1:n.*144_*149delinsCTTAAA
NM_000049.4:c.*144_*149delinsCTTAAA (ASPA) MANE Select	NP_000040.1:n.*144_*149delinsCTTAAA
NM_001321336.2:c.-74+14175_-74+14180delinsTTTAAG (SPATA22)	NP_001308265.1:n.-74+14175_-74+14180delinsTTTAAG
NM_001321337.2:c.-74+14175_-74+14180delinsTTTAAG (SPATA22)	NP_001308266.1:n.-74+14175_-74+14180delinsTTTAAG