Canonical Allele Identifier: CA2636826434

Gene: SLC46A1

Linked Data

• gnomAD v4: 17-28405730-TCTCGGTCAGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405732_28405742del , CM000679.2:g.28405732_28405742del	GRCh38
NC_000017.10:g.26732750_26732760del , CM000679.1:g.26732750_26732760del	GRCh37
NC_000017.9:g.23756877_23756887del	NCBI36
NG_013306.1:g.5470_5480del , LRG_183:g.5470_5480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612814.5:c.228+146_228+156del MANE Select	ENSP00000480703.1:n.228+146_228+156del
ENST00000578217.1:n.7_17del
ENST00000581516.1:c.6+146_6+156del	ENSP00000462942.1:n.6+146_6+156del
ENST00000582590.1:n.282+146_282+156del
ENST00000584426.1:c.-36-273_-36-263del	ENSP00000467416.1:n.-36-273_-36-263del
ENST00000584995.5:c.6+146_6+156del	ENSP00000464190.1:n.6+146_6+156del
ENST00000612814.4:c.228+146_228+156del	ENSP00000480703.1:n.228+146_228+156del
ENST00000618626.1:c.228+146_228+156del	ENSP00000483652.1:n.228+146_228+156del
NM_001242366.2:c.228+146_228+156del	NP_001229295.1:n.228+146_228+156del
NM_080669.5:c.228+146_228+156del	NP_542400.2:n.228+146_228+156del
XM_005277786.2:c.228+146_228+156del	XP_005277843.1:n.228+146_228+156del
XR_934643.1:n.89+281_89+291del
XM_005277786.3:c.228+146_228+156del	XP_005277843.1:n.228+146_228+156del
XM_017024110.1:c.6+146_6+156del	XP_016879599.1:n.6+146_6+156del
NM_080669.6:c.228+146_228+156del MANE Select	NP_542400.2:n.228+146_228+156del
NM_001242366.3:c.228+146_228+156del	NP_001229295.1:n.228+146_228+156del