Canonical Allele Identifier: CA2554083802

Gene: SLC23A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379777_139379778insCCCTTG , CM000667.2:g.139379777_139379778insCCCTTG	GRCh38
NC_000005.9:g.138715466_138715467insCCCTTG , CM000667.1:g.138715466_138715467insCCCTTG	GRCh37
NC_000005.8:g.138743365_138743366insCCCTTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.825_826insCAAGGG MANE Select	ENSP00000302701.4:p.Asp275_Val276insGlnGly
ENST00000348729.7:c.825_826insCAAGGG	ENSP00000302701.4:p.Asp275_Val276insGlnGly
ENST00000353963.7:c.837_838insCAAGGG	ENSP00000302851.5:p.Asp279_Val280insGlnGly
ENST00000504513.1:c.164+178_164+179insCAAGGG
ENST00000506512.1:n.436_437insCAAGGG
NM_005847.4:c.825_826insCAAGGG	NP_005838.3:p.Asp275_Val276insGlnGly
NM_152685.3:c.837_838insCAAGGG	NP_689898.2:p.Asp279_Val280insGlnGly
XM_005272148.3:c.945_946insCAAGGG	XP_005272205.3:p.Asp315_Val316insGlnGly
XM_005272149.3:c.933_934insCAAGGG	XP_005272206.3:p.Asp311_Val312insGlnGly
XM_006714741.2:c.945_946insCAAGGG	XP_006714804.2:p.Asp315_Val316insGlnGly
XM_011543765.1:c.945_946insCAAGGG	XP_011542067.1:p.Asp315_Val316insGlnGly
XM_011543766.1:c.726_727insCAAGGG	XP_011542068.1:p.Asp242_Val243insGlnGly
XM_011543767.1:c.630_631insCAAGGG	XP_011542069.1:p.Asp210_Val211insGlnGly
XM_011543768.1:c.510_511insCAAGGG	XP_011542070.1:p.Asp170_Val171insGlnGly
XM_011543769.1:c.120_121insCAAGGG	XP_011542071.1:p.Asp40_Val41insGlnGly
XM_005272149.4:c.933_934insCAAGGG	XP_005272206.3:p.Asp311_Val312insGlnGly
XM_011543765.2:c.945_946insCAAGGG	XP_011542067.1:p.Asp315_Val316insGlnGly
NM_005847.5:c.825_826insCAAGGG MANE Select	NP_005838.3:p.Asp275_Val276insGlnGly
NM_152685.4:c.837_838insCAAGGG	NP_689898.2:p.Asp279_Val280insGlnGly