Canonical Allele Identifier: CA7925728

Gene: ABCC6

Linked Data

• dbSNP Id: rs1567484380
• ExAC: 16:16263518 GGAGCCCGAAGATCCCGCCACGCAGGGCTGCCTGCGTCTGCTGCCCACCTACT / G
• gnomAD v2: 16-16263518-GGAGCCCGAAGATCCCGCCACGCAGGGCTGCCTGCGTCTGCTGCCCACCTACT-G
• MyVariant Identifiers: chr16:g.16263519_16263570del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169663_16169714del , CM000678.2:g.16169663_16169714del	GRCh38
NC_000016.9:g.16263520_16263571del , CM000678.1:g.16263520_16263571del	GRCh37
NC_000016.8:g.16171021_16171072del	NCBI36
NG_007558.2:g.58759_58810del
NG_007558.3:g.58905_58956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2928_2979del	ENSP00000483331.2:p.Val977SerfsTer18
ENST00000205557.12:c.2928_2979del MANE Select	ENSP00000205557.7:p.Val977SerfsTer18
ENST00000205557.11:c.2928_2979del	ENSP00000205557.7:p.Val977SerfsTer18
ENST00000456970.6:c.2753_2804del	ENSP00000405002.2:n.2753_2804del
ENST00000622290.4:c.*137_*188del	ENSP00000483331.1:n.*137_*188del
NM_001171.5:c.2928_2979del	NP_001162.4:p.Val977SerfsTer18
XM_011522479.1:c.2895_2946del	XP_011520781.1:p.Val966SerfsTer18
XM_011522480.1:c.2586_2637del	XP_011520782.1:p.Val863SerfsTer18
XM_011522481.1:c.2586_2637del	XP_011520783.1:p.Val863SerfsTer18
XR_932836.1:n.3163_3214del
XR_932837.1:n.3164_3215del
XR_932838.1:n.3164_3215del
NM_001351800.1:c.2586_2637del	NP_001338729.1:p.Val863SerfsTer18
NR_147784.1:n.2790_2841del
XM_011522479.2:c.2895_2946del	XP_011520781.1:p.Val966SerfsTer18
XM_011522481.3:c.2586_2637del	XP_011520783.1:p.Val863SerfsTer18
XM_017023212.1:c.2760_2811del	XP_016878701.1:p.Val921SerfsTer18
XM_017023214.1:c.2928_2979del	XP_016878703.1:p.Val977SerfsTer18
XM_024450261.1:c.2964_3015del	XP_024306029.1:p.Val989SerfsTer18
XR_932836.2:n.3109_3160del
XR_932837.3:n.3109_3160del
XR_932838.3:n.3109_3160del
NM_001171.6:c.2928_2979del MANE Select	NP_001162.5:p.Val977SerfsTer18