Canonical Allele Identifier: CA2243882451

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3481610_3481611delinsAT , CM000679.2:g.3481610_3481611delinsAT	GRCh38
NC_000017.10:g.3384904_3384905delinsAT , CM000679.1:g.3384904_3384905delinsAT	GRCh37
NC_000017.9:g.3331654_3331655delinsAT	NCBI36
NG_008399.1:g.12501_12502delinsAT
NG_008399.2:g.12965_12966delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.244_245delinsAT (ASPA) MANE Select	ENSP00000263080.2:p.Met82=
ENST00000263080.2:c.244_245delinsAT (ASPA)	ENSP00000263080.2:p.Met82=
ENST00000456349.6:c.244_245delinsAT (ASPA)	ENSP00000409976.2:p.Met82=
ENST00000541913.5:c.-73-12213_-73-12212delinsAT (SPATA22)	ENSP00000441920.1:n.-73-12213_-73-12212de...
ENST00000570318.1:c.-73-12213_-73-12212delinsAT (SPATA22)	ENSP00000459147.1:n.-73-12213_-73-12212de...
ENST00000571278.1:c.149_150delinsAT (ASPA)	ENSP00000461358.1:p.Asn50=
NM_000049.2:c.244_245delinsAT (ASPA)	NP_000040.1:p.Met82=
NM_001128085.1:c.244_245delinsAT (ASPA)	NP_001121557.1:p.Met82=
XM_005256829.1:c.-73-12213_-73-12212delinsAT (SPATA22)	XP_005256886.1:n.-73-12213_-73-12212delin...
XM_005256830.1:c.-73-12213_-73-12212delinsAT (SPATA22)	XP_005256887.1:n.-73-12213_-73-12212delin...
XM_006721527.2:c.244_245delinsAT (ASPA)	XP_006721590.1:p.Met82=
XR_934026.1:n.419_420delinsAT (ASPA)
NM_001321336.1:c.-73-12213_-73-12212delinsAT (SPATA22)	NP_001308265.1:n.-73-12213_-73-12212delin...
NM_001321337.1:c.-73-12213_-73-12212delinsAT (SPATA22)	NP_001308266.1:n.-73-12213_-73-12212delin...
XM_017024661.1:c.244_245delinsAT (ASPA)	XP_016880150.1:p.Met82=
XM_024450764.1:c.244_245delinsAT (ASPA)	XP_024306532.1:p.Met82=
XR_934026.2:n.419_420delinsAT (ASPA)
NM_000049.3:c.244_245delinsAT (ASPA)	NP_000040.1:p.Met82=
NM_000049.4:c.244_245delinsAT (ASPA) MANE Select	NP_000040.1:p.Met82=
NM_001321336.2:c.-73-12213_-73-12212delinsAT (SPATA22)	NP_001308265.1:n.-73-12213_-73-12212delin...
NM_001321337.2:c.-73-12213_-73-12212delinsAT (SPATA22)	NP_001308266.1:n.-73-12213_-73-12212delin...