Canonical Allele Identifier: CA2631959526

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16155119-GTCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155122_16155125del , CM000678.2:g.16155122_16155125del	GRCh38
NC_000016.9:g.16248979_16248982del , CM000678.1:g.16248979_16248982del	GRCh37
NC_000016.8:g.16156480_16156483del	NCBI36
NG_007558.2:g.73349_73352del
NG_007558.3:g.73495_73498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.654_657del
ENST00000622290.5:c.*55-92_*55-89del	ENSP00000483331.2:n.*55-92_*55-89del
ENST00000205557.12:c.3883-92_3883-89del MANE Select	ENSP00000205557.7:n.3883-92_3883-89del
ENST00000640696.1:c.697-92_697-89del	ENSP00000492197.1:n.697-92_697-89del
ENST00000205557.11:c.3883-92_3883-89del	ENSP00000205557.7:n.3883-92_3883-89del
ENST00000456970.6:c.3508-92_3508-89del	ENSP00000405002.2:n.3508-92_3508-89del
ENST00000576204.5:n.654_657del
ENST00000622290.4:c.*1092-92_*1092-89del	ENSP00000483331.1:n.*1092-92_*1092-89del
NM_001171.5:c.3883-92_3883-89del	NP_001162.4:n.3883-92_3883-89del
XM_011522479.1:c.3850-92_3850-89del	XP_011520781.1:n.3850-92_3850-89del
XM_011522480.1:c.3541-92_3541-89del	XP_011520782.1:n.3541-92_3541-89del
XM_011522481.1:c.3541-92_3541-89del	XP_011520783.1:n.3541-92_3541-89del
XR_932836.1:n.4181-92_4181-89del
XR_932837.1:n.3919-92_3919-89del
XR_932838.1:n.3982-92_3982-89del
XR_933134.1:n.539-4659_539-4656del
NM_001351800.1:c.3541-92_3541-89del	NP_001338729.1:n.3541-92_3541-89del
NR_147784.1:n.3545-92_3545-89del
XM_011522479.2:c.3850-92_3850-89del	XP_011520781.1:n.3850-92_3850-89del
XM_011522481.3:c.3541-92_3541-89del	XP_011520783.1:n.3541-92_3541-89del
XM_017023212.1:c.3715-92_3715-89del	XP_016878701.1:n.3715-92_3715-89del
XM_024450261.1:c.3919-92_3919-89del	XP_024306029.1:n.3919-92_3919-89del
XR_932836.2:n.4127-92_4127-89del
XR_932837.3:n.3864-92_3864-89del
XR_932838.3:n.3927-92_3927-89del
NM_001171.6:c.3883-92_3883-89del MANE Select	NP_001162.5:n.3883-92_3883-89del