Canonical Allele Identifier: CA2243896212
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3498514_3498524delinsATTTTTCGTAT , CM000679.2:g.3498514_3498524delinsATTTTTCGTAT GRCh38
NC_000017.10:g.3401808_3401818delinsATTTTTCGTAT , CM000679.1:g.3401808_3401818delinsATTTTTCGTAT GRCh37
NC_000017.9:g.3348558_3348568delinsATTTTTCGTAT NCBI36
NG_008399.1:g.29405_29415delinsATTTTTCGTAT
NG_008399.2:g.29869_29879delinsATTTTTCGTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263080.3:c.745-377_745-367delinsATTTTTCGTAT (ASPA) MANE Select ENSP00000263080.2:n.745-377_745-367delinsATTTTTCGTAT
ENST00000263080.2:c.745-377_745-367delinsATTTTTCGTAT (ASPA) ENSP00000263080.2:n.745-377_745-367delinsATTTTTCGTAT
ENST00000456349.6:c.745-377_745-367delinsATTTTTCGTAT (ASPA) ENSP00000409976.2:n.745-377_745-367delinsATTTTTCGTAT
ENST00000541913.5:c.-74+14888_-74+14898delinsATACGAAAAAT (SPATA22) ENSP00000441920.1:n.-74+14888_-74+14898delinsATACGAAAAAT
ENST00000570318.1:c.-74+15087_-74+15097delinsATACGAAAAAT (SPATA22) ENSP00000459147.1:n.-74+15087_-74+15097delinsATACGAAAAAT
NM_000049.2:c.745-377_745-367delinsATTTTTCGTAT (ASPA) NP_000040.1:n.745-377_745-367delinsATTTTTCGTAT
NM_001128085.1:c.745-377_745-367delinsATTTTTCGTAT (ASPA) NP_001121557.1:n.745-377_745-367delinsATTTTTCGTAT
XM_005256829.1:c.-74+14888_-74+14898delinsATACGAAAAAT (SPATA22) XP_005256886.1:n.-74+14888_-74+14898delinsATACGAAAAAT
XM_005256830.1:c.-74+14888_-74+14898delinsATACGAAAAAT (SPATA22) XP_005256887.1:n.-74+14888_-74+14898delinsATACGAAAAAT
XM_006721527.2:c.745-377_745-367delinsATTTTTCGTAT (ASPA) XP_006721590.1:n.745-377_745-367delinsATTTTTCGTAT
XR_934026.1:n.1012-377_1012-367delinsATTTTTCGTAT (ASPA)
NM_001321336.1:c.-74+14888_-74+14898delinsATACGAAAAAT (SPATA22) NP_001308265.1:n.-74+14888_-74+14898delinsATACGAAAAAT
NM_001321337.1:c.-74+14888_-74+14898delinsATACGAAAAAT (SPATA22) NP_001308266.1:n.-74+14888_-74+14898delinsATACGAAAAAT
XM_017024661.1:c.745-377_745-367delinsATTTTTCGTAT (ASPA) XP_016880150.1:n.745-377_745-367delinsATTTTTCGTAT
XM_024450764.1:c.745-377_745-367delinsATTTTTCGTAT (ASPA) XP_024306532.1:n.745-377_745-367delinsATTTTTCGTAT
XR_934026.2:n.1012-377_1012-367delinsATTTTTCGTAT (ASPA)
NM_000049.3:c.745-377_745-367delinsATTTTTCGTAT (ASPA) NP_000040.1:n.745-377_745-367delinsATTTTTCGTAT
NM_000049.4:c.745-377_745-367delinsATTTTTCGTAT (ASPA) MANE Select NP_000040.1:n.745-377_745-367delinsATTTTTCGTAT
NM_001321336.2:c.-74+14888_-74+14898delinsATACGAAAAAT (SPATA22) NP_001308265.1:n.-74+14888_-74+14898delinsATACGAAAAAT
NM_001321337.2:c.-74+14888_-74+14898delinsATACGAAAAAT (SPATA22) NP_001308266.1:n.-74+14888_-74+14898delinsATACGAAAAAT