Canonical Allele Identifier: CA2738125509

Gene: SLC5A1

Linked Data

• dbSNP Id: rs2149498328

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104891_32104892insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA , CM000684.2:g.32104891_32104892insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA	GRCh38
NC_000022.10:g.32500878_32500879insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA , CM000684.1:g.32500878_32500879insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA	GRCh37
NC_000022.9:g.30830878_30830879insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA	NCBI36
NG_017045.1:g.66860_66861insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1771_1771+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA MANE Select	ENSP00000266088.4:n.1771_1771+1insAAACACAAGTTCCTGAGAAGAAAAAAG...
ENST00000266088.8:c.1771_1771+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA	ENSP00000266088.4:n.1771_1771+1insAAACACAAGTTCCTGAGAAGAAAAAAG...
ENST00000543737.2:c.1390_1390+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA	ENSP00000444898.1:n.1390_1390+1insAAACACAAGTTCCTGAGAAGAAAAAAG...
NM_000343.3:c.1771_1771+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA	NP_000334.1:n.1771_1771+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCT...
NM_001256314.1:c.1390_1390+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA	NP_001243243.1:n.1390_1390+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAA...
XR_938173.1:n.591+1946_591+1947insTGAAGATTCCTTTTTTCTTCTCAGGAACTTGTGTTT
XR_938174.1:n.486+14963_486+14964insTGAAGATTCCTTTTTTCTTCTCAGGAACTTGTGTTT
NM_000343.4:c.1771_1771+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA MANE Select	NP_000334.1:n.1771_1771+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCT...
NM_001256314.2:c.1390_1390+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA	NP_001243243.1:n.1390_1390+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAA...