Canonical Allele Identifier: CA2243896692
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Linked Data

dbSNP Id: rs2073950077

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3498722_3498728dup , CM000679.2:g.3498722_3498728dup GRCh38
NC_000017.10:g.3402016_3402022dup , CM000679.1:g.3402016_3402022dup GRCh37
NC_000017.9:g.3348766_3348772dup NCBI36
NG_008399.1:g.29613_29619dup
NG_008399.2:g.30077_30083dup

Transcript Alleles

HGVS Amino-acid change
ENST00000263080.3:c.745-169_745-163dup (ASPA) MANE Select ENSP00000263080.2:n.745-169_745-163dup
ENST00000263080.2:c.745-169_745-163dup (ASPA) ENSP00000263080.2:n.745-169_745-163dup
ENST00000456349.6:c.745-169_745-163dup (ASPA) ENSP00000409976.2:n.745-169_745-163dup
ENST00000541913.5:c.-74+14684_-74+14690dup (SPATA22) ENSP00000441920.1:n.-74+14684_-74+14690dup
ENST00000570318.1:c.-74+14883_-74+14889dup (SPATA22) ENSP00000459147.1:n.-74+14883_-74+14889dup
NM_000049.2:c.745-169_745-163dup (ASPA) NP_000040.1:n.745-169_745-163dup
NM_001128085.1:c.745-169_745-163dup (ASPA) NP_001121557.1:n.745-169_745-163dup
XM_005256829.1:c.-74+14684_-74+14690dup (SPATA22) XP_005256886.1:n.-74+14684_-74+14690dup
XM_005256830.1:c.-74+14684_-74+14690dup (SPATA22) XP_005256887.1:n.-74+14684_-74+14690dup
XM_006721527.2:c.745-169_745-163dup (ASPA) XP_006721590.1:n.745-169_745-163dup
XR_934026.1:n.1012-169_1012-163dup (ASPA)
NM_001321336.1:c.-74+14684_-74+14690dup (SPATA22) NP_001308265.1:n.-74+14684_-74+14690dup
NM_001321337.1:c.-74+14684_-74+14690dup (SPATA22) NP_001308266.1:n.-74+14684_-74+14690dup
XM_017024661.1:c.745-169_745-163dup (ASPA) XP_016880150.1:n.745-169_745-163dup
XM_024450764.1:c.745-169_745-163dup (ASPA) XP_024306532.1:n.745-169_745-163dup
XR_934026.2:n.1012-169_1012-163dup (ASPA)
NM_000049.3:c.745-169_745-163dup (ASPA) NP_000040.1:n.745-169_745-163dup
NM_000049.4:c.745-169_745-163dup (ASPA) MANE Select NP_000040.1:n.745-169_745-163dup
NM_001321336.2:c.-74+14684_-74+14690dup (SPATA22) NP_001308265.1:n.-74+14684_-74+14690dup
NM_001321337.2:c.-74+14684_-74+14690dup (SPATA22) NP_001308266.1:n.-74+14684_-74+14690dup