Canonical Allele Identifier: CA1315650212
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2031128557

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189571639_189571640insCT , CM000664.2:g.189571639_189571640insCT GRCh38
NC_000002.11:g.190436365_190436366insCT , CM000664.1:g.190436365_190436366insCT GRCh37
NC_000002.10:g.190144610_190144611insCT NCBI36
NG_009027.1:g.14173_14174insGA , LRG_837:g.14173_14174insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.514+76_514+77insGA MANE Select ENSP00000261024.3:n.514+76_514+77insGA
ENST00000261024.6:c.514+76_514+77insGA ENSP00000261024.2:n.514+76_514+77insGA
ENST00000427241.5:c.514+76_514+77insGA ENSP00000390005.1:n.514+76_514+77insGA
NM_014585.5:c.514+76_514+77insGA , LRG_837t1:c.514+76_514+77insGA NP_055400.1:n.514+76_514+77insGA
XM_005246505.1:c.394+76_394+77insGA XP_005246562.1:n.394+76_394+77insGA
XM_005246505.2:c.394+76_394+77insGA XP_005246562.1:n.394+76_394+77insGA
XM_017003938.2:c.394+76_394+77insGA XP_016859427.1:n.394+76_394+77insGA
NM_014585.6:c.514+76_514+77insGA MANE Select NP_055400.1:n.514+76_514+77insGA