Canonical Allele Identifier: CA2571522222

Gene: SLCO6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391114_102391115del , CM000667.2:g.102391114_102391115del	GRCh38
NC_000005.9:g.101726818_101726819del , CM000667.1:g.101726818_101726819del	GRCh37
NC_000005.8:g.101754717_101754718del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1815-70_1815-69del MANE Select	ENSP00000421339.1:n.1815-70_1815-69del
ENST00000379807.7:c.1815-70_1815-69del	ENSP00000369135.3:n.1815-70_1815-69del
ENST00000389019.7:c.1629-70_1629-69del	ENSP00000373671.3:n.1629-70_1629-69del
ENST00000506729.5:c.1815-70_1815-69del	ENSP00000421339.1:n.1815-70_1815-69del
ENST00000513675.1:c.1056-70_1056-69del	ENSP00000421990.1:n.1056-70_1056-69del
ENST00000514765.6:n.115_116del
NM_001289002.1:c.1815-70_1815-69del	NP_001275931.1:n.1815-70_1815-69del
NM_001289004.1:c.1629-70_1629-69del	NP_001275933.1:n.1629-70_1629-69del
NM_001308014.1:c.1056-70_1056-69del	NP_001294943.1:n.1056-70_1056-69del
NM_173488.4:c.1815-70_1815-69del	NP_775759.3:n.1815-70_1815-69del
XM_005271874.2:c.1815-70_1815-69del	XP_005271931.1:n.1815-70_1815-69del
XM_011543147.1:c.1710-70_1710-69del	XP_011541449.1:n.1710-70_1710-69del
XM_011543148.1:c.1578-70_1578-69del	XP_011541450.1:n.1578-70_1578-69del
XM_011543149.1:c.1242-70_1242-69del	XP_011541451.1:n.1242-70_1242-69del
XM_011543150.1:c.1086-70_1086-69del	XP_011541452.1:n.1086-70_1086-69del
XM_011543151.1:c.1056-70_1056-69del	XP_011541453.1:n.1056-70_1056-69del
XM_011543153.1:c.993-70_993-69del	XP_011541455.1:n.993-70_993-69del
XM_005271874.3:c.1815-70_1815-69del	XP_005271931.1:n.1815-70_1815-69del
XM_011543147.2:c.1710-70_1710-69del	XP_011541449.1:n.1710-70_1710-69del
XM_011543148.2:c.1578-70_1578-69del	XP_011541450.1:n.1578-70_1578-69del
XM_011543153.2:c.993-70_993-69del	XP_011541455.1:n.993-70_993-69del
NM_001289002.2:c.1815-70_1815-69del	NP_001275931.1:n.1815-70_1815-69del
NM_001289004.2:c.1629-70_1629-69del	NP_001275933.1:n.1629-70_1629-69del
NM_001308014.2:c.1056-70_1056-69del	NP_001294943.1:n.1056-70_1056-69del
NM_173488.5:c.1815-70_1815-69del MANE Select	NP_775759.3:n.1815-70_1815-69del