Canonical Allele Identifier: CA4083931

Gene: SLC22A1

Linked Data

• dbSNP Id: rs761037209
• ExAC: 6:160557646 GCCTGAGGAAGCGCACCTTCAT / G
• gnomAD v2: 6-160557646-GCCTGAGGAAGCGCACCTTCAT-G
• gnomAD v4: 6-160136614-GCCTGAGGAAGCGCACCTTCAT-G
• MyVariant Identifiers: chr6:g.160557647_160557667del (hg19) ; chr6:g.160136615_160136635del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160136620_160136640del , CM000668.2:g.160136620_160136640del	GRCh38
NC_000006.11:g.160557652_160557672del , CM000668.1:g.160557652_160557672del	GRCh37
NC_000006.10:g.160477642_160477662del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1031_1051del MANE Select	ENSP00000355930.4:p.Arg344_Leu350del
ENST00000324965.8:c.1031_1051del	ENSP00000318103.4:p.Arg344_Leu350del
ENST00000366963.8:c.1031_1051del	ENSP00000355930.4:p.Arg344_Leu350del
ENST00000457470.6:c.1031_1051del	ENSP00000409557.2:p.Arg344_Leu350del
ENST00000460902.2:c.1031_1051del	ENSP00000439274.1:p.Arg344_Leu350del
ENST00000539263.5:c.*504_*524del	ENSP00000443245.1:n.*504_*524del
NM_003057.2:c.1031_1051del	NP_003048.1:p.Arg344_Leu350del
NM_153187.1:c.1031_1051del	NP_694857.1:p.Arg344_Leu350del
XM_005267102.3:c.1031_1051del	XP_005267159.1:p.Arg344_Leu350del
XM_005267103.1:c.1031_1051del	XP_005267160.1:p.Arg344_Leu350del
XM_005267104.3:c.455_475del	XP_005267161.1:p.Arg152_Leu158del
XM_005267105.3:c.455_475del	XP_005267162.1:p.Arg152_Leu158del
XM_006715552.1:c.1031_1051del	XP_006715615.1:p.Arg344_Leu350del
XM_011536074.1:c.455_475del	XP_011534376.1:p.Arg152_Leu158del
XM_005267102.5:c.1031_1051del	XP_005267159.1:p.Arg344_Leu350del
XM_005267103.2:c.1031_1051del	XP_005267160.1:p.Arg344_Leu350del
XM_005267104.5:c.455_475del	XP_005267161.1:p.Arg152_Leu158del
XM_005267105.5:c.455_475del	XP_005267162.1:p.Arg152_Leu158del
XM_006715552.2:c.1031_1051del	XP_006715615.1:p.Arg344_Leu350del
XM_011536074.3:c.455_475del	XP_011534376.1:p.Arg152_Leu158del
NM_003057.3:c.1031_1051del MANE Select	NP_003048.1:p.Arg344_Leu350del
NM_153187.2:c.1031_1051del	NP_694857.1:p.Arg344_Leu350del