Canonical Allele Identifier: CA645572489

Gene: ABCC6

Linked Data

• COSMIC: COSM5833013

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169662del , CM000678.2:g.16169662del	GRCh38
NC_000016.9:g.16263519del , CM000678.1:g.16263519del	GRCh37
NC_000016.8:g.16171020del	NCBI36
NG_007558.2:g.58811del
NG_007558.3:g.58957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2980del	ENSP00000483331.2:p.Leu994SerfsTer18
ENST00000205557.12:c.2980del MANE Select	ENSP00000205557.7:p.Leu994SerfsTer18
ENST00000205557.11:c.2980del	ENSP00000205557.7:p.Leu994SerfsTer18
ENST00000456970.6:c.2805del	ENSP00000405002.2:n.2805del
ENST00000622290.4:c.*189del	ENSP00000483331.1:n.*189del
NM_001171.5:c.2980del	NP_001162.4:p.Leu994SerfsTer18
XM_011522479.1:c.2947del	XP_011520781.1:p.Leu983SerfsTer18
XM_011522480.1:c.2638del	XP_011520782.1:p.Leu880SerfsTer18
XM_011522481.1:c.2638del	XP_011520783.1:p.Leu880SerfsTer18
XR_932836.1:n.3215del
XR_932837.1:n.3216del
XR_932838.1:n.3216del
NM_001351800.1:c.2638del	NP_001338729.1:p.Leu880SerfsTer18
NR_147784.1:n.2842del
XM_011522479.2:c.2947del	XP_011520781.1:p.Leu983SerfsTer18
XM_011522481.3:c.2638del	XP_011520783.1:p.Leu880SerfsTer18
XM_017023212.1:c.2812del	XP_016878701.1:p.Leu938SerfsTer18
XM_017023214.1:c.2980del	XP_016878703.1:p.Leu994SerfsTer18
XM_024450261.1:c.3016del	XP_024306029.1:p.Leu1006SerfsTer18
XR_932836.2:n.3161del
XR_932837.3:n.3161del
XR_932838.3:n.3161del
NM_001171.6:c.2980del MANE Select	NP_001162.5:p.Leu994SerfsTer18