Canonical Allele Identifier: CA2168922

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232544363_232544364del , CM000664.2:g.232544363_232544364del GRCh38
NC_000002.11:g.233409073_233409074del , CM000664.1:g.233409073_233409074del GRCh37
NC_000002.10:g.233117317_233117318del NCBI36
NG_012954.1:g.9637_9638del
NG_012954.2:g.9672_9673del

Transcript Alleles

HGVS Amino-acid Change
ENST00000408957.7:c.*3747_*3748del (TIGD1) MANE Select ENSP00000386186.3:n.*3747_*3748del
ENST00000651502.1:c.1036-4_1036-3del (CHRNG) MANE Select ENSP00000498757.1:n.1036-4_1036-3del
ENST00000389492.3:c.880-4_880-3del (CHRNG) ENSP00000374143.3:n.880-4_880-3del
ENST00000389494.7:c.1036-4_1036-3del (CHRNG) ENSP00000374145.3:n.1036-4_1036-3del
NM_005199.4:c.1036-4_1036-3del (CHRNG) NP_005190.4:n.1036-4_1036-3del
NM_005199.5:c.1036-4_1036-3del (CHRNG) MANE Select NP_005190.4:n.1036-4_1036-3del
NM_145702.4:c.*3747_*3748del (TIGD1) MANE Select NP_663748.1:n.*3747_*3748del