Canonical Allele Identifier: CA621197304

Gene: ABCC6

Linked Data

• dbSNP Id: rs1447954579
• gnomAD v2: 16-16243971-TAC-T
• gnomAD v4: 16-16150114-TAC-T
• MyVariant Identifiers: chr16:g.16243972_16243973del (hg19) ; chr16:g.16150115_16150116del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150115_16150116del , CM000678.2:g.16150115_16150116del	GRCh38
NC_000016.9:g.16243972_16243973del , CM000678.1:g.16243972_16243973del	GRCh37
NC_000016.8:g.16151473_16151474del	NCBI36
NG_007558.2:g.78356_78357del
NG_007558.3:g.78502_78503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*701_*702del	ENSP00000483331.2:n.*701_*702del
ENST00000205557.12:c.*17_*18del MANE Select	ENSP00000205557.7:n.*17_*18del
ENST00000640696.1:c.1343_1344del	ENSP00000492197.1:n.1343_1344del
ENST00000205557.11:c.*17_*18del	ENSP00000205557.7:n.*17_*18del
ENST00000576204.5:n.1392_1393del
ENST00000622290.4:c.*1738_*1739del	ENSP00000483331.1:n.*1738_*1739del
NM_001171.5:c.*17_*18del	NP_001162.4:n.*17_*18del
XM_011522479.1:c.*17_*18del	XP_011520781.1:n.*17_*18del
XM_011522480.1:c.*17_*18del	XP_011520782.1:n.*17_*18del
XM_011522481.1:c.*17_*18del	XP_011520783.1:n.*17_*18del
XR_933134.1:n.538+5825_538+5826del
NM_001351800.1:c.*17_*18del	NP_001338729.1:n.*17_*18del
NR_147784.1:n.4191_4192del
XM_011522479.2:c.*17_*18del	XP_011520781.1:n.*17_*18del
XM_011522481.3:c.*17_*18del	XP_011520783.1:n.*17_*18del
XM_017023212.1:c.*17_*18del	XP_016878701.1:n.*17_*18del
XM_024450261.1:c.*17_*18del	XP_024306029.1:n.*17_*18del
NM_001171.6:c.*17_*18del MANE Select	NP_001162.5:n.*17_*18del