Canonical Allele Identifier: CA2631972802

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16197989-CGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16197990_16197992del , CM000678.2:g.16197990_16197992del	GRCh38
NC_000016.9:g.16291847_16291849del , CM000678.1:g.16291847_16291849del	GRCh37
NC_000016.8:g.16199348_16199350del	NCBI36
NG_007558.2:g.30480_30482del
NG_007558.3:g.30626_30628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1338+29_1338+31del	ENSP00000507301.1:n.1338+29_1338+31del
ENST00000622290.5:c.1338+29_1338+31del	ENSP00000483331.2:n.1338+29_1338+31del
ENST00000205557.12:c.1338+29_1338+31del MANE Select	ENSP00000205557.7:n.1338+29_1338+31del
ENST00000205557.11:c.1338+29_1338+31del	ENSP00000205557.7:n.1338+29_1338+31del
ENST00000456970.6:c.1338+29_1338+31del	ENSP00000405002.2:n.1338+29_1338+31del
ENST00000574094.5:n.1434+29_1434+31del
ENST00000622290.4:c.1338+29_1338+31del	ENSP00000483331.1:n.1338+29_1338+31del
NM_001171.5:c.1338+29_1338+31del	NP_001162.4:n.1338+29_1338+31del
XM_011522479.1:c.1338+29_1338+31del	XP_011520781.1:n.1338+29_1338+31del
XM_011522480.1:c.996+29_996+31del	XP_011520782.1:n.996+29_996+31del
XM_011522481.1:c.996+29_996+31del	XP_011520783.1:n.996+29_996+31del
XM_011522482.1:c.1338+29_1338+31del	XP_011520784.1:n.1338+29_1338+31del
XR_932836.1:n.1573+29_1573+31del
XR_932837.1:n.1574+29_1574+31del
XR_932838.1:n.1574+29_1574+31del
NM_001351800.1:c.996+29_996+31del	NP_001338729.1:n.996+29_996+31del
NR_147784.1:n.1375+29_1375+31del
XM_011522479.2:c.1338+29_1338+31del	XP_011520781.1:n.1338+29_1338+31del
XM_011522481.3:c.996+29_996+31del	XP_011520783.1:n.996+29_996+31del
XM_011522482.3:c.1338+29_1338+31del	XP_011520784.1:n.1338+29_1338+31del
XM_017023212.1:c.1338+29_1338+31del	XP_016878701.1:n.1338+29_1338+31del
XM_017023214.1:c.1338+29_1338+31del	XP_016878703.1:n.1338+29_1338+31del
XM_024450261.1:c.1374+29_1374+31del	XP_024306029.1:n.1374+29_1374+31del
XR_932836.2:n.1519+29_1519+31del
XR_932837.3:n.1519+29_1519+31del
XR_932838.3:n.1519+29_1519+31del
NM_001171.6:c.1338+29_1338+31del MANE Select	NP_001162.5:n.1338+29_1338+31del