Canonical Allele Identifier: CA2806038340

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198135_16198136insCACCCCCAAAC , CM000678.2:g.16198135_16198136insCACCCCCAAAC	GRCh38
NC_000016.9:g.16291992_16291993insCACCCCCAAAC , CM000678.1:g.16291992_16291993insCACCCCCAAAC	GRCh37
NC_000016.8:g.16199493_16199494insCACCCCCAAAC	NCBI36
NG_007558.2:g.30336_30337insGTTTGGGGGTG
NG_007558.3:g.30482_30483insGTTTGGGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1223_1224insGTTTGGGGGTG	ENSP00000507301.1:p.Asp408GlufsTer17
ENST00000622290.5:c.1223_1224insGTTTGGGGGTG	ENSP00000483331.2:p.Asp408GlufsTer17
ENST00000205557.12:c.1223_1224insGTTTGGGGGTG MANE Select	ENSP00000205557.7:p.Asp408GlufsTer17
ENST00000205557.11:c.1223_1224insGTTTGGGGGTG	ENSP00000205557.7:p.Asp408GlufsTer17
ENST00000456970.6:c.1223_1224insGTTTGGGGGTG	ENSP00000405002.2:p.Asp408GlufsTer17
ENST00000574094.5:n.1319_1320insGTTTGGGGGTG
ENST00000622290.4:c.1223_1224insGTTTGGGGGTG	ENSP00000483331.1:p.Asp408GlufsTer17
NM_001171.5:c.1223_1224insGTTTGGGGGTG	NP_001162.4:p.Asp408GlufsTer17
XM_011522479.1:c.1223_1224insGTTTGGGGGTG	XP_011520781.1:p.Asp408GlufsTer17
XM_011522480.1:c.881_882insGTTTGGGGGTG	XP_011520782.1:p.Asp294GlufsTer17
XM_011522481.1:c.881_882insGTTTGGGGGTG	XP_011520783.1:p.Asp294GlufsTer17
XM_011522482.1:c.1223_1224insGTTTGGGGGTG	XP_011520784.1:p.Asp408GlufsTer17
XR_932836.1:n.1458_1459insGTTTGGGGGTG
XR_932837.1:n.1459_1460insGTTTGGGGGTG
XR_932838.1:n.1459_1460insGTTTGGGGGTG
NM_001351800.1:c.881_882insGTTTGGGGGTG	NP_001338729.1:p.Asp294GlufsTer17
NR_147784.1:n.1260_1261insGTTTGGGGGTG
XM_011522479.2:c.1223_1224insGTTTGGGGGTG	XP_011520781.1:p.Asp408GlufsTer17
XM_011522481.3:c.881_882insGTTTGGGGGTG	XP_011520783.1:p.Asp294GlufsTer17
XM_011522482.3:c.1223_1224insGTTTGGGGGTG	XP_011520784.1:p.Asp408GlufsTer17
XM_017023212.1:c.1223_1224insGTTTGGGGGTG	XP_016878701.1:p.Asp408GlufsTer17
XM_017023214.1:c.1223_1224insGTTTGGGGGTG	XP_016878703.1:p.Asp408GlufsTer17
XM_024450261.1:c.1259_1260insGTTTGGGGGTG	XP_024306029.1:p.Asp420GlufsTer17
XR_932836.2:n.1404_1405insGTTTGGGGGTG
XR_932837.3:n.1404_1405insGTTTGGGGGTG
XR_932838.3:n.1404_1405insGTTTGGGGGTG
NM_001171.6:c.1223_1224insGTTTGGGGGTG MANE Select	NP_001162.5:p.Asp408GlufsTer17