Canonical Allele Identifier: CA7925567

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433390
• ClinVar RCV Id: RCV000499250 ; RCV001591135
• dbSNP Id: rs72664211
• ExAC: 16:16256844 TCCTA / T
• gnomAD v2: 16-16256844-TCCTA-T
• gnomAD v4: 16-16162987-TCCTA-T
• MyVariant Identifiers: chr16:g.16256848_16256851del (hg19) ; chr16:g.16256845_16256848del (hg19) ; chr16:g.16162991_16162994del (hg38) ; chr16:g.16162988_16162991del (hg38)
• PubMed: PMID:16835894

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16162991_16162994del , CM000678.2:g.16162991_16162994del	GRCh38
NC_000016.9:g.16256848_16256851del , CM000678.1:g.16256848_16256851del	GRCh37
NC_000016.8:g.16164349_16164352del	NCBI36
NG_007558.2:g.65481_65484del
NG_007558.3:g.65627_65630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3506+2_3506+5del
ENST00000205557.12:c.3506+2_3506+5del
ENST00000640696.1:c.321-1427_321-1424del	ENSP00000492197.1:n.321-1427_321-1424del
ENST00000205557.11:c.3506+2_3506+5del
ENST00000456970.6:c.3132-1427_3132-1424del	ENSP00000405002.2:n.3132-1427_3132-1424del
ENST00000622290.4:c.*715+2_*715+5del
NM_001171.5:c.3506+2_3506+5del
XM_011522479.1:c.3473+2_3473+5del
XM_011522480.1:c.3164+2_3164+5del
XM_011522481.1:c.3164+2_3164+5del
XR_932836.1:n.3741+2_3741+5del
XR_932837.1:n.3543-1427_3543-1424del
XR_932838.1:n.3543-1427_3543-1424del
XR_933133.1:n.407+148_407+151del
XR_933134.1:n.754+148_754+151del
NM_001351800.1:c.3164+2_3164+5del
NR_147784.1:n.3169-1427_3169-1424del
XM_011522479.2:c.3473+2_3473+5del
XM_011522481.3:c.3164+2_3164+5del
XM_017023212.1:c.3338+2_3338+5del
XM_017023214.1:c.3307-1427_3307-1424del	XP_016878703.1:n.3307-1427_3307-1424del
XM_024450261.1:c.3542+2_3542+5del
XR_932836.2:n.3687+2_3687+5del
XR_932837.3:n.3488-1427_3488-1424del
XR_932838.3:n.3488-1427_3488-1424del
NM_001171.6:c.3506+2_3506+5del