Canonical Allele Identifier: CA416093607

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1557664990
• gnomAD v2: 1-17312999-CCAG-C
• gnomAD v4: 1-16986504-CCAG-C
• COSMIC: COSM5844514
• MyVariant Identifiers: chr1:g.17313000_17313002del (hg19) ; chr1:g.16986505_16986507del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986515_16986517del , CM000663.2:g.16986515_16986517del	GRCh38
NC_000001.10:g.17313010_17313012del , CM000663.1:g.17313010_17313012del	GRCh37
NC_000001.9:g.17185597_17185599del	NCBI36
NG_009054.1:g.30422_30424del
NG_029688.1:g.80_82del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3361_3363del MANE Select	ENSP00000327214.8:p.Leu1121del
ENST00000326735.12:c.3361_3363del	ENSP00000327214.8:p.Leu1121del
ENST00000341676.9:c.3104-149_3104-147del	ENSP00000341115.5:n.3104-149_3104-147del
ENST00000452699.5:c.3346_3348del	ENSP00000413307.1:p.Leu1116del
ENST00000466561.1:n.1407_1409del
ENST00000502418.1:c.824-149_824-147del	ENSP00000423065.1:n.824-149_824-147del
NM_001141973.2:c.3346_3348del	NP_001135445.1:p.Leu1116del
NM_001141974.2:c.3104-149_3104-147del	NP_001135446.1:n.3104-149_3104-147del
NM_022089.3:c.3361_3363del	NP_071372.1:p.Leu1121del
XM_005245809.1:c.3236-149_3236-147del	XP_005245866.1:n.3236-149_3236-147del
XM_005245810.1:c.3233-149_3233-147del	XP_005245867.1:n.3233-149_3233-147del
XM_005245811.1:c.3221-149_3221-147del	XP_005245868.1:n.3221-149_3221-147del
XM_005245812.1:c.3209-149_3209-147del	XP_005245869.1:n.3209-149_3209-147del
XM_005245813.1:c.3176-149_3176-147del	XP_005245870.1:n.3176-149_3176-147del
XM_005245815.1:c.3119-149_3119-147del	XP_005245872.1:n.3119-149_3119-147del
XM_006710512.1:c.3218-149_3218-147del	XP_006710575.1:n.3218-149_3218-147del
XM_006710513.1:c.3194-149_3194-147del	XP_006710576.1:n.3194-149_3194-147del
XM_011541128.1:c.3221-149_3221-147del	XP_011539430.1:n.3221-149_3221-147del
XM_011541129.1:c.3029-149_3029-147del	XP_011539431.1:n.3029-149_3029-147del
XM_017000844.1:c.3346_3348del	XP_016856333.1:p.Leu1116del
XM_017000845.1:c.3343_3345del	XP_016856334.1:p.Leu1115del
XM_017000846.1:c.3319_3321del	XP_016856335.1:p.Leu1107del
XM_017000847.1:c.3316_3318del	XP_016856336.1:p.Leu1106del
XM_017000848.1:c.3244_3246del	XP_016856337.1:p.Leu1082del
XM_017000849.1:c.3229_3231del	XP_016856338.1:p.Leu1077del
XM_017000850.1:c.3154_3156del	XP_016856339.1:p.Leu1052del
NM_022089.4:c.3361_3363del MANE Select	NP_071372.1:p.Leu1121del
NM_001141973.3:c.3346_3348del	NP_001135445.1:p.Leu1116del
NM_001141974.3:c.3104-149_3104-147del	NP_001135446.1:n.3104-149_3104-147del