Canonical Allele Identifier: CA2631961101

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16149742-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149745_16149746del , CM000678.2:g.16149745_16149746del	GRCh38
NC_000016.9:g.16243602_16243603del , CM000678.1:g.16243602_16243603del	GRCh37
NC_000016.8:g.16151103_16151104del	NCBI36
NG_007558.2:g.78728_78729del
NG_007558.3:g.78874_78875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*1073_*1074del	ENSP00000483331.2:n.*1073_*1074del
ENST00000205557.12:c.*389_*390del MANE Select	ENSP00000205557.7:n.*389_*390del
ENST00000640696.1:c.1715_1716del	ENSP00000492197.1:n.1715_1716del
ENST00000205557.11:c.*389_*390del	ENSP00000205557.7:n.*389_*390del
ENST00000576204.5:n.1764_1765del
ENST00000622290.4:c.*2110_*2111del	ENSP00000483331.1:n.*2110_*2111del
NM_001171.5:c.*389_*390del	NP_001162.4:n.*389_*390del
XM_011522479.1:c.*389_*390del	XP_011520781.1:n.*389_*390del
XM_011522480.1:c.*389_*390del	XP_011520782.1:n.*389_*390del
XM_011522481.1:c.*389_*390del	XP_011520783.1:n.*389_*390del
XR_933134.1:n.538+5455_538+5456del
NM_001351800.1:c.*389_*390del	NP_001338729.1:n.*389_*390del
NR_147784.1:n.4563_4564del
XM_011522479.2:c.*389_*390del	XP_011520781.1:n.*389_*390del
XM_011522481.3:c.*389_*390del	XP_011520783.1:n.*389_*390del
XM_017023212.1:c.*389_*390del	XP_016878701.1:n.*389_*390del
XM_024450261.1:c.*389_*390del	XP_024306029.1:n.*389_*390del
NM_001171.6:c.*389_*390del MANE Select	NP_001162.5:n.*389_*390del