Canonical Allele Identifier: CA2695222862

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16203414del , CM000678.2:g.16203414del	GRCh38
NC_000016.9:g.16297271del , CM000678.1:g.16297271del	GRCh37
NC_000016.8:g.16204772del	NCBI36
NG_007558.2:g.25058del
NG_007558.3:g.25204del

Transcript Alleles

HGVS	Amino-acid change
ENST00000574094.6:c.994del	ENSP00000507301.1:p.Leu332SerfsTer24
ENST00000622290.5:c.994del	ENSP00000483331.2:p.Leu332SerfsTer24
ENST00000205557.12:c.994del MANE Select	ENSP00000205557.7:p.Leu332SerfsTer24
ENST00000205557.11:c.994del	ENSP00000205557.7:p.Leu332SerfsTer24
ENST00000456970.6:c.994del	ENSP00000405002.2:p.Leu332SerfsTer24
ENST00000574094.5:n.1090del
ENST00000577103.1:c.*861del	ENSP00000459243.1:n.*861del
ENST00000622290.4:c.994del	ENSP00000483331.1:p.Leu332SerfsTer24
NM_001171.5:c.994del	NP_001162.4:p.Leu332SerfsTer24
XM_011522479.1:c.994del	XP_011520781.1:p.Leu332SerfsTer24
XM_011522480.1:c.652del	XP_011520782.1:p.Leu218SerfsTer24
XM_011522481.1:c.652del	XP_011520783.1:p.Leu218SerfsTer24
XM_011522482.1:c.994del	XP_011520784.1:p.Leu332SerfsTer24
XR_932836.1:n.1229del
XR_932837.1:n.1230del
XR_932838.1:n.1230del
NM_001351800.1:c.652del	NP_001338729.1:p.Leu218SerfsTer24
NR_147784.1:n.1031del
XM_011522479.2:c.994del	XP_011520781.1:p.Leu332SerfsTer24
XM_011522481.3:c.652del	XP_011520783.1:p.Leu218SerfsTer24
XM_011522482.3:c.994del	XP_011520784.1:p.Leu332SerfsTer24
XM_017023212.1:c.994del	XP_016878701.1:p.Leu332SerfsTer24
XM_017023214.1:c.994del	XP_016878703.1:p.Leu332SerfsTer24
XM_024450261.1:c.1030del	XP_024306029.1:p.Leu344SerfsTer24
XR_932836.2:n.1175del
XR_932837.3:n.1175del
XR_932838.3:n.1175del
NM_001171.6:c.994del MANE Select	NP_001162.5:p.Leu332SerfsTer24