Canonical Allele Identifier: CA2986556339
Community Standard Title: NM_025257.3(SLC44A4):c.1234-450_1234-449del
Gene: SLC44A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31866575_31866576del , CM000668.2:g.31866575_31866576del GRCh38
NC_000006.11:g.31834352_31834353del , CM000668.1:g.31834352_31834353del GRCh37
NC_000006.10:g.31942331_31942332del NCBI36
NG_008201.1:g.1357_1358del
NG_023058.1:g.17471_17472del

Transcript Alleles

HGVS Amino-acid Change
NM_025257.3:c.1234-450_1234-449del MANE Select NP_079533.2:n.1234-450_1234-449del
ENST00000229729.11:c.1234-450_1234-449del MANE Select ENSP00000229729.6:n.1234-450_1234-449del
NM_001178044.1:c.1108-450_1108-449del NP_001171515.1:n.1108-450_1108-449del
NM_001178044.2:c.1108-450_1108-449del NP_001171515.1:n.1108-450_1108-449del
NM_001178045.1:c.1006-450_1006-449del NP_001171516.1:n.1006-450_1006-449del
NM_001178045.2:c.1006-450_1006-449del NP_001171516.1:n.1006-450_1006-449del
NM_025257.2:c.1234-450_1234-449del NP_079533.2:n.1234-450_1234-449del
ENST00000229729.10:c.1234-450_1234-449del ENSP00000229729.6:n.1234-450_1234-449del
ENST00000375562.8:c.1108-450_1108-449del ENSP00000364712.4:n.1108-450_1108-449del
ENST00000414427.1:c.885-450_885-449del
ENST00000479777.1:n.588-450_588-449del
ENST00000544672.5:c.1006-450_1006-449del ENSP00000444109.1:n.1006-450_1006-449del