Canonical Allele Identifier: CA2243892568

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs2073875861
• gnomAD v3: 17-3494385-AAAAT-A
• gnomAD v4: 17-3494385-AAAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3494386_3494389del , CM000679.2:g.3494386_3494389del	GRCh38
NC_000017.10:g.3397680_3397683del , CM000679.1:g.3397680_3397683del	GRCh37
NC_000017.9:g.3344430_3344433del	NCBI36
NG_008399.1:g.25277_25280del
NG_008399.2:g.25741_25744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.671_674del (ASPA) MANE Select	ENSP00000263080.2:p.Lys224IlefsTer2
ENST00000263080.2:c.671_674del (ASPA)	ENSP00000263080.2:p.Lys224IlefsTer2
ENST00000456349.6:c.671_674del (ASPA)	ENSP00000409976.2:p.Lys224IlefsTer2
ENST00000541913.5:c.-74+19023_-74+19026del (SPATA22)	ENSP00000441920.1:n.-74+19023_-74+19026del
ENST00000570318.1:c.-74+19222_-74+19225del (SPATA22)	ENSP00000459147.1:n.-74+19222_-74+19225del
NM_000049.2:c.671_674del (ASPA)	NP_000040.1:p.Lys224IlefsTer2
NM_001128085.1:c.671_674del (ASPA)	NP_001121557.1:p.Lys224IlefsTer2
XM_005256829.1:c.-74+19023_-74+19026del (SPATA22)	XP_005256886.1:n.-74+19023_-74+19026del
XM_005256830.1:c.-74+19023_-74+19026del (SPATA22)	XP_005256887.1:n.-74+19023_-74+19026del
XM_006721527.2:c.671_674del (ASPA)	XP_006721590.1:p.Lys224IlefsTer2
XR_934026.1:n.846_849del (ASPA)
NM_001321336.1:c.-74+19023_-74+19026del (SPATA22)	NP_001308265.1:n.-74+19023_-74+19026del
NM_001321337.1:c.-74+19023_-74+19026del (SPATA22)	NP_001308266.1:n.-74+19023_-74+19026del
XM_017024661.1:c.671_674del (ASPA)	XP_016880150.1:p.Lys224IlefsTer2
XM_024450764.1:c.671_674del (ASPA)	XP_024306532.1:p.Lys224IlefsTer2
XR_934026.2:n.846_849del (ASPA)
NM_000049.3:c.671_674del (ASPA)	NP_000040.1:p.Lys224IlefsTer2
NM_000049.4:c.671_674del (ASPA) MANE Select	NP_000040.1:p.Lys224IlefsTer2
NM_001321336.2:c.-74+19023_-74+19026del (SPATA22)	NP_001308265.1:n.-74+19023_-74+19026del
NM_001321337.2:c.-74+19023_-74+19026del (SPATA22)	NP_001308266.1:n.-74+19023_-74+19026del