Canonical Allele Identifier: CA2662328706
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189564050-CAT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564051_189564052del , CM000664.2:g.189564051_189564052del GRCh38
NC_000002.11:g.190428777_190428778del , CM000664.1:g.190428777_190428778del GRCh37
NC_000002.10:g.190137022_190137023del NCBI36
NG_009027.1:g.21760_21761del , LRG_837:g.21760_21761del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.934_935del MANE Select ENSP00000261024.3:p.Met312GlyfsTer13
ENST00000261024.6:c.934_935del ENSP00000261024.2:p.Met312GlyfsTer13
NM_014585.5:c.934_935del , LRG_837t1:c.934_935del NP_055400.1:p.Met312GlyfsTer13
XM_005246505.1:c.814_815del XP_005246562.1:p.Met272GlyfsTer13
XM_005246505.2:c.814_815del XP_005246562.1:p.Met272GlyfsTer13
XM_017003938.2:c.814_815del XP_016859427.1:p.Met272GlyfsTer13
NM_014585.6:c.934_935del MANE Select NP_055400.1:p.Met312GlyfsTer13
Search 100 bp 5'
Search 100 bp 3'