Canonical Allele Identifier: CA2243884054

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs2073667998
• gnomAD v4: 17-3483442-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3483444_3483445del , CM000679.2:g.3483444_3483445del	GRCh38
NC_000017.10:g.3386738_3386739del , CM000679.1:g.3386738_3386739del	GRCh37
NC_000017.9:g.3333488_3333489del	NCBI36
NG_008399.1:g.14335_14336del
NG_008399.2:g.14799_14800del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.433-55_433-54del (ASPA) MANE Select	ENSP00000263080.2:n.433-55_433-54del
ENST00000263080.2:c.433-55_433-54del (ASPA)	ENSP00000263080.2:n.433-55_433-54del
ENST00000456349.6:c.433-55_433-54del (ASPA)	ENSP00000409976.2:n.433-55_433-54del
ENST00000541913.5:c.-73-14046_-73-14045del (SPATA22)	ENSP00000441920.1:n.-73-14046_-73-14045del
ENST00000570318.1:c.-73-14046_-73-14045del (SPATA22)	ENSP00000459147.1:n.-73-14046_-73-14045del
ENST00000571278.1:c.*167-55_*167-54del (ASPA)	ENSP00000461358.1:n.*167-55_*167-54del
NM_000049.2:c.433-55_433-54del (ASPA)	NP_000040.1:n.433-55_433-54del
NM_001128085.1:c.433-55_433-54del (ASPA)	NP_001121557.1:n.433-55_433-54del
XM_005256829.1:c.-73-14046_-73-14045del (SPATA22)	XP_005256886.1:n.-73-14046_-73-14045del
XM_005256830.1:c.-73-14046_-73-14045del (SPATA22)	XP_005256887.1:n.-73-14046_-73-14045del
XM_006721527.2:c.433-55_433-54del (ASPA)	XP_006721590.1:n.433-55_433-54del
XR_934026.1:n.608-55_608-54del (ASPA)
NM_001321336.1:c.-73-14046_-73-14045del (SPATA22)	NP_001308265.1:n.-73-14046_-73-14045del
NM_001321337.1:c.-73-14046_-73-14045del (SPATA22)	NP_001308266.1:n.-73-14046_-73-14045del
XM_017024661.1:c.433-55_433-54del (ASPA)	XP_016880150.1:n.433-55_433-54del
XM_024450764.1:c.433-55_433-54del (ASPA)	XP_024306532.1:n.433-55_433-54del
XR_934026.2:n.608-55_608-54del (ASPA)
NM_000049.3:c.433-55_433-54del (ASPA)	NP_000040.1:n.433-55_433-54del
NM_000049.4:c.433-55_433-54del (ASPA) MANE Select	NP_000040.1:n.433-55_433-54del
NM_001321336.2:c.-73-14046_-73-14045del (SPATA22)	NP_001308265.1:n.-73-14046_-73-14045del
NM_001321337.2:c.-73-14046_-73-14045del (SPATA22)	NP_001308266.1:n.-73-14046_-73-14045del