Canonical Allele Identifier: CA2512860892
Gene: SLCO6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.102390908_102390909insCA , CM000667.2:g.102390908_102390909insCA GRCh38
NC_000005.9:g.101726612_101726613insCA , CM000667.1:g.101726612_101726613insCA GRCh37
NC_000005.8:g.101754511_101754512insCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506729.6:c.1879+72_1879+73insTG MANE Select ENSP00000421339.1:n.1879+72_1879+73insTG
ENST00000379807.7:c.1879+72_1879+73insTG ENSP00000369135.3:n.1879+72_1879+73insTG
ENST00000389019.7:c.1693+72_1693+73insTG ENSP00000373671.3:n.1693+72_1693+73insTG
ENST00000506729.5:c.1879+72_1879+73insTG ENSP00000421339.1:n.1879+72_1879+73insTG
ENST00000513675.1:c.1120+72_1120+73insTG ENSP00000421990.1:n.1120+72_1120+73insTG
ENST00000514765.6:n.249+72_249+73insTG
NM_001289002.1:c.1879+72_1879+73insTG NP_001275931.1:n.1879+72_1879+73insTG
NM_001289004.1:c.1693+72_1693+73insTG NP_001275933.1:n.1693+72_1693+73insTG
NM_001308014.1:c.1120+72_1120+73insTG NP_001294943.1:n.1120+72_1120+73insTG
NM_173488.4:c.1879+72_1879+73insTG NP_775759.3:n.1879+72_1879+73insTG
XM_005271874.2:c.1879+72_1879+73insTG XP_005271931.1:n.1879+72_1879+73insTG
XM_011543147.1:c.1774+72_1774+73insTG XP_011541449.1:n.1774+72_1774+73insTG
XM_011543148.1:c.1642+72_1642+73insTG XP_011541450.1:n.1642+72_1642+73insTG
XM_011543149.1:c.1306+72_1306+73insTG XP_011541451.1:n.1306+72_1306+73insTG
XM_011543150.1:c.1150+72_1150+73insTG XP_011541452.1:n.1150+72_1150+73insTG
XM_011543151.1:c.1120+72_1120+73insTG XP_011541453.1:n.1120+72_1120+73insTG
XM_011543153.1:c.1057+72_1057+73insTG XP_011541455.1:n.1057+72_1057+73insTG
XM_005271874.3:c.1879+72_1879+73insTG XP_005271931.1:n.1879+72_1879+73insTG
XM_011543147.2:c.1774+72_1774+73insTG XP_011541449.1:n.1774+72_1774+73insTG
XM_011543148.2:c.1642+72_1642+73insTG XP_011541450.1:n.1642+72_1642+73insTG
XM_011543153.2:c.1057+72_1057+73insTG XP_011541455.1:n.1057+72_1057+73insTG
NM_001289002.2:c.1879+72_1879+73insTG NP_001275931.1:n.1879+72_1879+73insTG
NM_001289004.2:c.1693+72_1693+73insTG NP_001275933.1:n.1693+72_1693+73insTG
NM_001308014.2:c.1120+72_1120+73insTG NP_001294943.1:n.1120+72_1120+73insTG
NM_173488.5:c.1879+72_1879+73insTG MANE Select NP_775759.3:n.1879+72_1879+73insTG