Canonical Allele Identifier: CA2631963504

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150751-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150754_16150756del , CM000678.2:g.16150754_16150756del	GRCh38
NC_000016.9:g.16244611_16244613del , CM000678.1:g.16244611_16244613del	GRCh37
NC_000016.8:g.16152112_16152114del	NCBI36
NG_007558.2:g.77718_77720del
NG_007558.3:g.77864_77866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*399_*401del	ENSP00000483331.2:n.*399_*401del
ENST00000205557.12:c.4227_4229del MANE Select	ENSP00000205557.7:p.Leu1410del
ENST00000640696.1:c.1041_1043del	ENSP00000492197.1:p.Leu348del
ENST00000205557.11:c.4227_4229del	ENSP00000205557.7:p.Leu1410del
ENST00000456970.6:c.3852_3854del	ENSP00000405002.2:n.3852_3854del
ENST00000576204.5:n.1090_1092del
ENST00000622290.4:c.*1436_*1438del	ENSP00000483331.1:n.*1436_*1438del
NM_001171.5:c.4227_4229del	NP_001162.4:p.Leu1410del
XM_011522479.1:c.4194_4196del	XP_011520781.1:p.Leu1399del
XM_011522480.1:c.3885_3887del	XP_011520782.1:p.Leu1296del
XM_011522481.1:c.3885_3887del	XP_011520783.1:p.Leu1296del
XR_933134.1:n.538+6464_538+6466del
NM_001351800.1:c.3885_3887del	NP_001338729.1:p.Leu1296del
NR_147784.1:n.3889_3891del
XM_011522479.2:c.4194_4196del	XP_011520781.1:p.Leu1399del
XM_011522481.3:c.3885_3887del	XP_011520783.1:p.Leu1296del
XM_017023212.1:c.4059_4061del	XP_016878701.1:p.Leu1354del
XM_024450261.1:c.4263_4265del	XP_024306029.1:p.Leu1422del
NM_001171.6:c.4227_4229del MANE Select	NP_001162.5:p.Leu1410del