Canonical Allele Identifier: CA2580616791
Community Standard Title: NM_001358235.2(DCHS2):c.4019-835_4019-834insA
Gene: DCHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154323322_154323323insT , CM000666.2:g.154323322_154323323insT GRCh38
NC_000004.11:g.155244474_155244475insT , CM000666.1:g.155244474_155244475insT GRCh37
NC_000004.10:g.155463924_155463925insT NCBI36
NG_054879.1:g.173456_173457insA

Transcript Alleles

HGVS Amino-acid Change
NM_001358235.2:c.4019-835_4019-834insA MANE Select NP_001345164.1:n.4019-835_4019-834insA
ENST00000357232.10:c.4019-835_4019-834insA MANE Select ENSP00000349768.5:n.4019-835_4019-834insA
NM_001142552.1:c.4025_4026insA NP_001136024.1:p.Met1343TyrfsTer?
NM_001142552.2:c.4025_4026insA NP_001136024.1:p.Met1343TyrfsTer?
NM_001358235.1:c.4019-835_4019-834insA NP_001345164.1:n.4019-835_4019-834insA
NM_017639.3:c.2654-835_2654-834insA NP_060109.2:n.2654-835_2654-834insA
ENST00000339452.2:c.4025_4026insA ENSP00000345062.1:p.Met1343TyrfsTer?
ENST00000357232.8:c.2653-835_2653-834insA
ENST00000623607.3:c.2654-835_2654-834insA ENSP00000485514.1:n.2654-835_2654-834insA
ENST00000623607.4:n.2653-835_2653-834insA
XM_011532045.1:c.4019-835_4019-834insA XP_011530347.1:n.4019-835_4019-834insA
XM_011532046.1:c.1688-835_1688-834insA XP_011530348.1:n.1688-835_1688-834insA
XM_011532046.2:c.1688-835_1688-834insA XP_011530348.1:n.1688-835_1688-834insA
XM_011532047.1:c.1580-835_1580-834insA XP_011530349.1:n.1580-835_1580-834insA
XM_011532048.1:c.77-835_77-834insA XP_011530350.1:n.77-835_77-834insA