Canonical Allele Identifier: CA2243884053

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3483442_3483444delinsCAA , CM000679.2:g.3483442_3483444delinsCAA	GRCh38
NC_000017.10:g.3386736_3386738delinsCAA , CM000679.1:g.3386736_3386738delinsCAA	GRCh37
NC_000017.9:g.3333486_3333488delinsCAA	NCBI36
NG_008399.1:g.14333_14335delinsCAA
NG_008399.2:g.14797_14799delinsCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.433-57_433-55delinsCAA (ASPA) MANE Select	ENSP00000263080.2:n.433-57_433-55delinsCAA
ENST00000263080.2:c.433-57_433-55delinsCAA (ASPA)	ENSP00000263080.2:n.433-57_433-55delinsCAA
ENST00000456349.6:c.433-57_433-55delinsCAA (ASPA)	ENSP00000409976.2:n.433-57_433-55delinsCAA
ENST00000541913.5:c.-73-14046_-73-14044delinsTTG (SPATA22)	ENSP00000441920.1:n.-73-14046_-73-14044delinsTTG
ENST00000570318.1:c.-73-14046_-73-14044delinsTTG (SPATA22)	ENSP00000459147.1:n.-73-14046_-73-14044delinsTTG
ENST00000571278.1:c.*167-57_*167-55delinsCAA (ASPA)	ENSP00000461358.1:n.*167-57_*167-55delinsCAA
NM_000049.2:c.433-57_433-55delinsCAA (ASPA)	NP_000040.1:n.433-57_433-55delinsCAA
NM_001128085.1:c.433-57_433-55delinsCAA (ASPA)	NP_001121557.1:n.433-57_433-55delinsCAA
XM_005256829.1:c.-73-14046_-73-14044delinsTTG (SPATA22)	XP_005256886.1:n.-73-14046_-73-14044delinsTTG
XM_005256830.1:c.-73-14046_-73-14044delinsTTG (SPATA22)	XP_005256887.1:n.-73-14046_-73-14044delinsTTG
XM_006721527.2:c.433-57_433-55delinsCAA (ASPA)	XP_006721590.1:n.433-57_433-55delinsCAA
XR_934026.1:n.608-57_608-55delinsCAA (ASPA)
NM_001321336.1:c.-73-14046_-73-14044delinsTTG (SPATA22)	NP_001308265.1:n.-73-14046_-73-14044delinsTTG
NM_001321337.1:c.-73-14046_-73-14044delinsTTG (SPATA22)	NP_001308266.1:n.-73-14046_-73-14044delinsTTG
XM_017024661.1:c.433-57_433-55delinsCAA (ASPA)	XP_016880150.1:n.433-57_433-55delinsCAA
XM_024450764.1:c.433-57_433-55delinsCAA (ASPA)	XP_024306532.1:n.433-57_433-55delinsCAA
XR_934026.2:n.608-57_608-55delinsCAA (ASPA)
NM_000049.3:c.433-57_433-55delinsCAA (ASPA)	NP_000040.1:n.433-57_433-55delinsCAA
NM_000049.4:c.433-57_433-55delinsCAA (ASPA) MANE Select	NP_000040.1:n.433-57_433-55delinsCAA
NM_001321336.2:c.-73-14046_-73-14044delinsTTG (SPATA22)	NP_001308265.1:n.-73-14046_-73-14044delinsTTG
NM_001321337.2:c.-73-14046_-73-14044delinsTTG (SPATA22)	NP_001308266.1:n.-73-14046_-73-14044delinsTTG