Canonical Allele Identifier: CA728316622
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Linked Data

dbSNP Id: rs1254935744
gnomAD v3: 17-3498926-CAT-C
gnomAD v4: 17-3498926-CAT-C
MyVariant Identifiers: chr17:g.3402221_3402222del (hg19) chr17:g.3498927_3498928del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3498927_3498928del , CM000679.2:g.3498927_3498928del GRCh38
NC_000017.10:g.3402221_3402222del , CM000679.1:g.3402221_3402222del GRCh37
NC_000017.9:g.3348971_3348972del NCBI36
NG_008399.1:g.29818_29819del
NG_008399.2:g.30282_30283del

Transcript Alleles

HGVS Amino-acid change
ENST00000263080.3:c.781_782del (ASPA) MANE Select ENSP00000263080.2:p.Met261ValfsTer5
ENST00000263080.2:c.781_782del (ASPA) ENSP00000263080.2:p.Met261ValfsTer5
ENST00000456349.6:c.781_782del (ASPA) ENSP00000409976.2:p.Met261ValfsTer5
ENST00000541913.5:c.-74+14484_-74+14485del (SPATA22) ENSP00000441920.1:n.-74+14484_-74+14485de...
ENST00000570318.1:c.-74+14683_-74+14684del (SPATA22) ENSP00000459147.1:n.-74+14683_-74+14684de...
NM_000049.2:c.781_782del (ASPA) NP_000040.1:p.Met261ValfsTer5
NM_001128085.1:c.781_782del (ASPA) NP_001121557.1:p.Met261ValfsTer5
XM_005256829.1:c.-74+14484_-74+14485del (SPATA22) XP_005256886.1:n.-74+14484_-74+14485del
XM_005256830.1:c.-74+14484_-74+14485del (SPATA22) XP_005256887.1:n.-74+14484_-74+14485del
XM_006721527.2:c.781_782del (ASPA) XP_006721590.1:p.Met261ValfsTer5
XR_934026.1:n.1048_1049del (ASPA)
NM_001321336.1:c.-74+14484_-74+14485del (SPATA22) NP_001308265.1:n.-74+14484_-74+14485del
NM_001321337.1:c.-74+14484_-74+14485del (SPATA22) NP_001308266.1:n.-74+14484_-74+14485del
XM_017024661.1:c.781_782del (ASPA) XP_016880150.1:p.Met261ValfsTer5
XM_024450764.1:c.781_782del (ASPA) XP_024306532.1:p.Met261ValfsTer5
XR_934026.2:n.1048_1049del (ASPA)
NM_000049.3:c.781_782del (ASPA) NP_000040.1:p.Met261ValfsTer5
NM_000049.4:c.781_782del (ASPA) MANE Select NP_000040.1:p.Met261ValfsTer5
NM_001321336.2:c.-74+14484_-74+14485del (SPATA22) NP_001308265.1:n.-74+14484_-74+14485del
NM_001321337.2:c.-74+14484_-74+14485del (SPATA22) NP_001308266.1:n.-74+14484_-74+14485del
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