Canonical Allele Identifier: CA2631959240

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154991-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154994del , CM000678.2:g.16154994del	GRCh38
NC_000016.9:g.16248851del , CM000678.1:g.16248851del	GRCh37
NC_000016.8:g.16156352del	NCBI36
NG_007558.2:g.73480del
NG_007558.3:g.73626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.785del
ENST00000622290.5:c.*94del	ENSP00000483331.2:n.*94del
ENST00000205557.12:c.3922del MANE Select	ENSP00000205557.7:p.Leu1308TrpfsTer?
ENST00000640696.1:c.736del	ENSP00000492197.1:p.Leu246TrpfsTer?
ENST00000205557.11:c.3922del	ENSP00000205557.7:p.Leu1308TrpfsTer?
ENST00000456970.6:c.3547del	ENSP00000405002.2:n.3547del
ENST00000576204.5:n.785del
ENST00000622290.4:c.*1131del	ENSP00000483331.1:n.*1131del
NM_001171.5:c.3922del	NP_001162.4:p.Leu1308TrpfsTer?
XM_011522479.1:c.3889del	XP_011520781.1:p.Leu1297TrpfsTer?
XM_011522480.1:c.3580del	XP_011520782.1:p.Leu1194TrpfsTer?
XM_011522481.1:c.3580del	XP_011520783.1:p.Leu1194TrpfsTer?
XR_932836.1:n.4220del
XR_932837.1:n.3958del
XR_932838.1:n.4021del
XR_933134.1:n.539-4787del
NM_001351800.1:c.3580del	NP_001338729.1:p.Leu1194TrpfsTer?
NR_147784.1:n.3584del
XM_011522479.2:c.3889del	XP_011520781.1:p.Leu1297TrpfsTer?
XM_011522481.3:c.3580del	XP_011520783.1:p.Leu1194TrpfsTer?
XM_017023212.1:c.3754del	XP_016878701.1:p.Leu1252TrpfsTer?
XM_024450261.1:c.3958del	XP_024306029.1:p.Leu1320TrpfsTer?
XR_932836.2:n.4166del
XR_932837.3:n.3903del
XR_932838.3:n.3966del
NM_001171.6:c.3922del MANE Select	NP_001162.5:p.Leu1308TrpfsTer?