Canonical Allele Identifier: CA1085719968

Gene: DSP

Linked Data

• gnomAD v3: 6-7554125-A-ACCCACACACACACACACACACACC
• gnomAD v4: 6-7554125-A-ACCCACACACACACACACACACACC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7554129_7554130insCACACACACACACACACACCCCCA , CM000668.2:g.7554129_7554130insCACACACACACACACACACCCCCA	GRCh38
NC_000006.11:g.7554362_7554363insCACACACACACACACACACCCCCA , CM000668.1:g.7554362_7554363insCACACACACACACACACACCCCCA	GRCh37
NC_000006.10:g.7499361_7499362insCACACACACACACACACACCCCCA	NCBI36
NG_008803.1:g.17493_17494insCACACACACACACACACACCCCCA , LRG_423:g.17493_17494insCACACACACACACACACACCCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683682.2:c.171-1589_171-1588insCACACACACACACACACACCCCCA	ENSP00000508162.2:n.171-1589_171-1588insCACACACACACACACACACCC...
ENST00000710359.1:c.171-1589_171-1588insCACACACACACACACACACCCCCA	ENSP00000518230.1:n.171-1589_171-1588insCACACACACACACACACACCC...
ENST00000683563.1:n.63-1589_63-1588insCACACACACACACACACACCCCCA
ENST00000683682.1:c.66-1589_66-1588insCACACACACACACACACACCCCCA	ENSP00000508162.1:n.66-1589_66-1588insCACACACACACACACACACCCCC...
ENST00000379802.8:c.171-1589_171-1588insCACACACACACACACACACCCCCA MANE Select	ENSP00000369129.3:n.171-1589_171-1588insCACACACACACACACACACCC...
ENST00000379802.7:c.171-1589_171-1588insCACACACACACACACACACCCCCA	ENSP00000369129.3:n.171-1589_171-1588insCACACACACACACACACACCC...
ENST00000418664.2:c.171-1589_171-1588insCACACACACACACACACACCCCCA	ENSP00000396591.2:n.171-1589_171-1588insCACACACACACACACACACCC...
NM_001008844.1:c.171-1589_171-1588insCACACACACACACACACACCCCCA	NP_001008844.1:n.171-1589_171-1588insCACACACACACACACACACCCCCA...
NM_004415.2:c.171-1589_171-1588insCACACACACACACACACACCCCCA , LRG_423t1:c.171-1589_171-1588insCACACACACACACACACACCCCCA	NP_004406.2:n.171-1589_171-1588insCACACACACACACACACACCCCCA
XM_011514323.1:c.171-1589_171-1588insCACACACACACACACACACCCCCA	XP_011512625.1:n.171-1589_171-1588insCACACACACACACACACACCCCCA...
NM_001008844.2:c.171-1589_171-1588insCACACACACACACACACACCCCCA	NP_001008844.1:n.171-1589_171-1588insCACACACACACACACACACCCCCA...
NM_001319034.1:c.171-1589_171-1588insCACACACACACACACACACCCCCA	NP_001305963.1:n.171-1589_171-1588insCACACACACACACACACACCCCCA...
NM_004415.3:c.171-1589_171-1588insCACACACACACACACACACCCCCA	NP_004406.2:n.171-1589_171-1588insCACACACACACACACACACCCCCA
NM_004415.4:c.171-1589_171-1588insCACACACACACACACACACCCCCA MANE Select	NP_004406.2:n.171-1589_171-1588insCACACACACACACACACACCCCCA
NM_001008844.3:c.171-1589_171-1588insCACACACACACACACACACCCCCA	NP_001008844.1:n.171-1589_171-1588insCACACACACACACACACACCCCCA...
NM_001319034.2:c.171-1589_171-1588insCACACACACACACACACACCCCCA	NP_001305963.1:n.171-1589_171-1588insCACACACACACACACACACCCCCA...