Canonical Allele Identifier: CA2669711181
Gene: MSANTD1 HGNC NCBI

Linked Data

gnomAD v4: 4-3256524-CT-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3256528del , CM000666.2:g.3256528del GRCh38
NC_000004.11:g.3258255del , CM000666.1:g.3258255del GRCh37
NC_000004.10:g.3228053del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000438480.7:c.*563del MANE Select ENSP00000411584.2:n.*563del
ENST00000505599.5:c.729+671del ENSP00000425405.1:n.729+671del
ENST00000507492.5:c.*563del ENSP00000423547.1:n.*563del
ENST00000510580.1:c.765+635del ENSP00000420966.1:n.765+635del
NM_001042690.1:c.*563del NP_001036155.1:n.*563del
XM_006713883.2:c.*563del XP_006713946.1:n.*563del
XM_011513464.1:c.729+671del XP_011511766.1:n.729+671del
XM_011513465.1:c.*563del XP_011511767.1:n.*563del
XM_011513466.1:c.*563del XP_011511768.1:n.*563del
XM_011513467.1:c.*563del XP_011511769.1:n.*563del
XR_924950.1:n.753+671del
NM_001330620.1:c.*563del NP_001317549.1:n.*563del
XM_011513466.3:c.*563del XP_011511768.1:n.*563del
XM_011513467.3:c.*563del XP_011511769.1:n.*563del
NM_001042690.2:c.*563del MANE Select NP_001036155.1:n.*563del
NM_001330620.2:c.*563del NP_001317549.1:n.*563del