Canonical Allele Identifier: CA3273079878
Community Standard Title: NM_000049.4(ASPA):c.211_213delinsTTA (p.Arg71Leu)
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3476370_3476372delinsTTA , CM000679.2:g.3476370_3476372delinsTTA GRCh38
NC_000017.10:g.3379664_3379666delinsTTA , CM000679.1:g.3379664_3379666delinsTTA GRCh37
NC_000017.9:g.3326414_3326416delinsTTA NCBI36
NG_008399.1:g.7261_7263delinsTTA
NG_008399.2:g.7725_7727delinsTTA

Transcript Alleles

HGVS Amino-acid Change
NM_000049.4:c.211_213delinsTTA (ASPA) MANE Select NP_000040.1:p.Arg71Leu
ENST00000263080.3:c.211_213delinsTTA (ASPA) MANE Select ENSP00000263080.2:p.Arg71Leu
NM_000049.2:c.211_213delinsTTA (ASPA) NP_000040.1:p.Arg71Leu
NM_000049.3:c.211_213delinsTTA (ASPA) NP_000040.1:p.Arg71Leu
NM_001128085.1:c.211_213delinsTTA (ASPA) NP_001121557.1:p.Arg71Leu
NM_001321336.1:c.-73-6974_-73-6972delinsTAA (SPATA22) NP_001308265.1:n.-73-6974_-73-6972delinsTAA
NM_001321336.2:c.-73-6974_-73-6972delinsTAA (SPATA22) NP_001308265.1:n.-73-6974_-73-6972delinsTAA
NM_001321337.1:c.-73-6974_-73-6972delinsTAA (SPATA22) NP_001308266.1:n.-73-6974_-73-6972delinsTAA
NM_001321337.2:c.-73-6974_-73-6972delinsTAA (SPATA22) NP_001308266.1:n.-73-6974_-73-6972delinsTAA
ENST00000263080.2:c.211_213delinsTTA (ASPA) ENSP00000263080.2:p.Arg71Leu
ENST00000456349.6:c.211_213delinsTTA (ASPA) ENSP00000409976.2:p.Arg71Leu
ENST00000541913.5:c.-73-6974_-73-6972delinsTAA (SPATA22) ENSP00000441920.1:n.-73-6974_-73-6972delinsTAA
ENST00000570318.1:c.-73-6974_-73-6972delinsTAA (SPATA22) ENSP00000459147.1:n.-73-6974_-73-6972delinsTAA
ENST00000571278.1:c.141+70_141+72delinsTTA (ASPA) ENSP00000461358.1:n.141+70_141+72delinsTTA
ENST00000577034.1:c.211_213delinsTTA (ASPA) ENSP00000458324.1:p.Arg71Leu
XM_005256829.1:c.-73-6974_-73-6972delinsTAA (SPATA22) XP_005256886.1:n.-73-6974_-73-6972delinsTAA
XM_005256830.1:c.-73-6974_-73-6972delinsTAA (SPATA22) XP_005256887.1:n.-73-6974_-73-6972delinsTAA
XM_006721527.2:c.211_213delinsTTA (ASPA) XP_006721590.1:p.Arg71Leu
XM_017024661.1:c.211_213delinsTTA (ASPA) XP_016880150.1:p.Arg71Leu
XM_024450764.1:c.211_213delinsTTA (ASPA) XP_024306532.1:p.Arg71Leu
XR_934026.1:n.386_388delinsTTA (ASPA)
XR_934026.2:n.386_388delinsTTA (ASPA)
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