Canonical Allele Identifier: CA718549315

Gene: ABCC6

Linked Data

• dbSNP Id: rs1412252432
• gnomAD v3: 16-16155115-ATCTG-A
• gnomAD v4: 16-16155115-ATCTG-A
• MyVariant Identifiers: chr16:g.16248973_16248976del (hg19) ; chr16:g.16155116_16155119del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155119_16155122del , CM000678.2:g.16155119_16155122del	GRCh38
NC_000016.9:g.16248976_16248979del , CM000678.1:g.16248976_16248979del	GRCh37
NC_000016.8:g.16156477_16156480del	NCBI36
NG_007558.2:g.73353_73356del
NG_007558.3:g.73499_73502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.658_661del
ENST00000622290.5:c.*55-88_*55-85del	ENSP00000483331.2:n.*55-88_*55-85del
ENST00000205557.12:c.3883-88_3883-85del MANE Select	ENSP00000205557.7:n.3883-88_3883-85del
ENST00000640696.1:c.697-88_697-85del	ENSP00000492197.1:n.697-88_697-85del
ENST00000205557.11:c.3883-88_3883-85del	ENSP00000205557.7:n.3883-88_3883-85del
ENST00000456970.6:c.3508-88_3508-85del	ENSP00000405002.2:n.3508-88_3508-85del
ENST00000576204.5:n.658_661del
ENST00000622290.4:c.*1092-88_*1092-85del	ENSP00000483331.1:n.*1092-88_*1092-85del
NM_001171.5:c.3883-88_3883-85del	NP_001162.4:n.3883-88_3883-85del
XM_011522479.1:c.3850-88_3850-85del	XP_011520781.1:n.3850-88_3850-85del
XM_011522480.1:c.3541-88_3541-85del	XP_011520782.1:n.3541-88_3541-85del
XM_011522481.1:c.3541-88_3541-85del	XP_011520783.1:n.3541-88_3541-85del
XR_932836.1:n.4181-88_4181-85del
XR_932837.1:n.3919-88_3919-85del
XR_932838.1:n.3982-88_3982-85del
XR_933134.1:n.539-4662_539-4659del
NM_001351800.1:c.3541-88_3541-85del	NP_001338729.1:n.3541-88_3541-85del
NR_147784.1:n.3545-88_3545-85del
XM_011522479.2:c.3850-88_3850-85del	XP_011520781.1:n.3850-88_3850-85del
XM_011522481.3:c.3541-88_3541-85del	XP_011520783.1:n.3541-88_3541-85del
XM_017023212.1:c.3715-88_3715-85del	XP_016878701.1:n.3715-88_3715-85del
XM_024450261.1:c.3919-88_3919-85del	XP_024306029.1:n.3919-88_3919-85del
XR_932836.2:n.4127-88_4127-85del
XR_932837.3:n.3864-88_3864-85del
XR_932838.3:n.3927-88_3927-85del
NM_001171.6:c.3883-88_3883-85del MANE Select	NP_001162.5:n.3883-88_3883-85del