Canonical Allele Identifier: CA538918051

Gene: SLC40A1

Linked Data

• gnomAD v2: 2-190439906-G-GAGGTCAGCATCATCATAAGCAGGAGAAGGTGTTGGGATAGTACCTGTGAATGAGATAACACCTTCATTTGAGATACTAATATCCTTACCTGCTTTATAAGTTTTACCTCCTGAGCTATTA
• MyVariant Identifiers: chr2:g.190439906_190439907insAGGTCAGCATCATCATAAGCAGGAGAAGGTGTTGGGATAGTACCTGTGAATGAGATAACACCTTCATTTGAGATACTAATATCCTTACCTGCTTTATAAGTTTTACCTCCTGAGCTATTA (hg19) ; chr2:g.189575180_189575181insAGGTCAGCATCATCATAAGCAGGAGAAGGTGTTGGGATAGTACCTGTGAATGAGATAACACCTTCATTTGAGATACTAATATCCTTACCTGCTTTATAAGTTTTACCTCCTGAGCTATTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575180_189575181insAGGTCAGCATCATCATAAGCAGGAGAAGGTGTTGGGATAGTACCTGTGAATGAGATAACACCTTCATTTGAGATACTAATATCCTTACCTGCTTTATAAGTTTTACCTCCTGAGCTATTA , CM000664.2:g.189575180_189575181insAGGTCAGCATCATCATAAGCAGGAGAAGGTGTTGGGATAGTACCTGTGAATGAGATAACACCTTCATTTGAGATACTAATATCCTTACCTGCTTTATAAGTTTTACCTCCTGAGCTATTA	GRCh38
NC_000002.11:g.190439906_190439907insAGGTCAGCATCATCATAAGCAGGAGAAGGTGTTGGGATAGTACCTGTGAATGAGATAACACCTTCATTTGAGATACTAATATCCTTACCTGCTTTATAAGTTTTACCTCCTGAGCTATTA , CM000664.1:g.190439906_190439907insAGGTCAGCATCATCATAAGCAGGAGAAGGTGTTGGGATAGTACCTGTGAATGAGATAACACCTTCATTTGAGATACTAATATCCTTACCTGCTTTATAAGTTTTACCTCCTGAGCTATTA	GRCh37
NC_000002.10:g.190148151_190148152insAGGTCAGCATCATCATAAGCAGGAGAAGGTGTTGGGATAGTACCTGTGAATGAGATAACACCTTCATTTGAGATACTAATATCCTTACCTGCTTTATAAGTTTTACCTCCTGAGCTATTA	NCBI36
NG_009027.1:g.10631_10632insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT , LRG_837:g.10631_10632insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.251_252insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT MANE Select	ENSP00000261024.3:p.Asp84_Lys85insAsnSerSerGlyGlyLysThrTyrLys...
ENST00000261024.6:c.251_252insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT	ENSP00000261024.2:p.Asp84_Lys85insAsnSerSerGlyGlyLysThrTyrLys...
ENST00000418714.1:n.692_693insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT
ENST00000427241.5:c.251_252insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT	ENSP00000390005.1:p.Asp84_Lys85insAsnSerSerGlyGlyLysThrTyrLys...
ENST00000479598.5:n.532_533insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT
NM_014585.5:c.251_252insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT , LRG_837t1:c.251_252insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT	NP_055400.1:p.Asp84_Lys85insAsnSerSerGlyGlyLysThrTyrLysAlaGly...
XM_005246505.1:c.131_132insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT	XP_005246562.1:p.Asp44_Lys45insAsnSerSerGlyGlyLysThrTyrLysAla...
XM_005246505.2:c.131_132insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT	XP_005246562.1:p.Asp44_Lys45insAsnSerSerGlyGlyLysThrTyrLysAla...
XM_017003938.2:c.131_132insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT	XP_016859427.1:p.Asp44_Lys45insAsnSerSerGlyGlyLysThrTyrLysAla...
NM_014585.6:c.251_252insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT MANE Select	NP_055400.1:p.Asp84_Lys85insAsnSerSerGlyGlyLysThrTyrLysAlaGly...