Canonical Allele Identifier: CA7926359

Gene: ABCC6

Linked Data

• dbSNP Id: rs776347894
• ExAC: 16:16291869 CTG / C
• gnomAD v2: 16-16291869-CTG-C
• gnomAD v4: 16-16198012-CTG-C
• MyVariant Identifiers: chr16:g.16291870_16291871del (hg19) ; chr16:g.16198013_16198014del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198013_16198014del , CM000678.2:g.16198013_16198014del	GRCh38
NC_000016.9:g.16291870_16291871del , CM000678.1:g.16291870_16291871del	GRCh37
NC_000016.8:g.16199371_16199372del	NCBI36
NG_007558.2:g.30458_30459del
NG_007558.3:g.30604_30605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1338+7_1338+8del	ENSP00000507301.1:n.1338+7_1338+8del
ENST00000622290.5:c.1338+7_1338+8del	ENSP00000483331.2:n.1338+7_1338+8del
ENST00000205557.12:c.1338+7_1338+8del MANE Select	ENSP00000205557.7:n.1338+7_1338+8del
ENST00000205557.11:c.1338+7_1338+8del	ENSP00000205557.7:n.1338+7_1338+8del
ENST00000456970.6:c.1338+7_1338+8del	ENSP00000405002.2:n.1338+7_1338+8del
ENST00000574094.5:n.1434+7_1434+8del
ENST00000622290.4:c.1338+7_1338+8del	ENSP00000483331.1:n.1338+7_1338+8del
NM_001171.5:c.1338+7_1338+8del	NP_001162.4:n.1338+7_1338+8del
XM_011522479.1:c.1338+7_1338+8del	XP_011520781.1:n.1338+7_1338+8del
XM_011522480.1:c.996+7_996+8del	XP_011520782.1:n.996+7_996+8del
XM_011522481.1:c.996+7_996+8del	XP_011520783.1:n.996+7_996+8del
XM_011522482.1:c.1338+7_1338+8del	XP_011520784.1:n.1338+7_1338+8del
XR_932836.1:n.1573+7_1573+8del
XR_932837.1:n.1574+7_1574+8del
XR_932838.1:n.1574+7_1574+8del
NM_001351800.1:c.996+7_996+8del	NP_001338729.1:n.996+7_996+8del
NR_147784.1:n.1375+7_1375+8del
XM_011522479.2:c.1338+7_1338+8del	XP_011520781.1:n.1338+7_1338+8del
XM_011522481.3:c.996+7_996+8del	XP_011520783.1:n.996+7_996+8del
XM_011522482.3:c.1338+7_1338+8del	XP_011520784.1:n.1338+7_1338+8del
XM_017023212.1:c.1338+7_1338+8del	XP_016878701.1:n.1338+7_1338+8del
XM_017023214.1:c.1338+7_1338+8del	XP_016878703.1:n.1338+7_1338+8del
XM_024450261.1:c.1374+7_1374+8del	XP_024306029.1:n.1374+7_1374+8del
XR_932836.2:n.1519+7_1519+8del
XR_932837.3:n.1519+7_1519+8del
XR_932838.3:n.1519+7_1519+8del
NM_001171.6:c.1338+7_1338+8del MANE Select	NP_001162.5:n.1338+7_1338+8del