Canonical Allele Identifier: CA2631961198

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16149822-AGCCTGGGCATGTGCTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149824_16149839del , CM000678.2:g.16149824_16149839del	GRCh38
NC_000016.9:g.16243681_16243696del , CM000678.1:g.16243681_16243696del	GRCh37
NC_000016.8:g.16151182_16151197del	NCBI36
NG_007558.2:g.78634_78649del
NG_007558.3:g.78780_78795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*979_*994del	ENSP00000483331.2:n.*979_*994del
ENST00000205557.12:c.*295_*310del MANE Select	ENSP00000205557.7:n.*295_*310del
ENST00000640696.1:c.1621_1636del	ENSP00000492197.1:n.1621_1636del
ENST00000205557.11:c.*295_*310del	ENSP00000205557.7:n.*295_*310del
ENST00000576204.5:n.1670_1685del
ENST00000622290.4:c.*2016_*2031del	ENSP00000483331.1:n.*2016_*2031del
NM_001171.5:c.*295_*310del	NP_001162.4:n.*295_*310del
XM_011522479.1:c.*295_*310del	XP_011520781.1:n.*295_*310del
XM_011522480.1:c.*295_*310del	XP_011520782.1:n.*295_*310del
XM_011522481.1:c.*295_*310del	XP_011520783.1:n.*295_*310del
XR_933134.1:n.538+5534_538+5549del
NM_001351800.1:c.*295_*310del	NP_001338729.1:n.*295_*310del
NR_147784.1:n.4469_4484del
XM_011522479.2:c.*295_*310del	XP_011520781.1:n.*295_*310del
XM_011522481.3:c.*295_*310del	XP_011520783.1:n.*295_*310del
XM_017023212.1:c.*295_*310del	XP_016878701.1:n.*295_*310del
XM_024450261.1:c.*295_*310del	XP_024306029.1:n.*295_*310del
NM_001171.6:c.*295_*310del MANE Select	NP_001162.5:n.*295_*310del