Canonical Allele Identifier: CA1608778684

Gene: TXNDC5 BLOC1S5-TXNDC5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7884991_7885019delinsTACCCGACTCTGTTCCCTTGTCTCTTCTG , CM000668.2:g.7884991_7885019delinsTACCCGACTCTGTTCCCTTGTCTCTTCTG	GRCh38
NC_000006.11:g.7885224_7885252delinsTACCCGACTCTGTTCCCTTGTCTCTTCTG , CM000668.1:g.7885224_7885252delinsTACCCGACTCTGTTCCCTTGTCTCTTCTG	GRCh37
NC_000006.10:g.7830223_7830251delinsTACCCGACTCTGTTCCCTTGTCTCTTCTG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379757.9:c.1047-531_1047-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (TXNDC5) MANE Select	ENSP00000369081.4:n.1047-531_1047-503deli...
ENST00000379757.8:c.1047-531_1047-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (TXNDC5)	ENSP00000369081.4:n.1047-531_1047-503deli...
ENST00000439343.2:c.1156-531_1156-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.1156-531_1156-503deli...
ENST00000460138.5:n.825-531_825-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (TXNDC5)
ENST00000473453.2:c.723-531_723-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (TXNDC5)	ENSP00000420784.1:n.723-531_723-503delins...
ENST00000475802.1:n.341-531_341-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (TXNDC5)
NM_001145549.2:c.723-531_723-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (TXNDC5)	NP_001139021.1:n.723-531_723-503delinsCAG...
NM_030810.3:c.1047-531_1047-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (TXNDC5)	NP_110437.2:n.1047-531_1047-503delinsCAGA...
NR_037616.1:n.1206-531_1206-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (BLOC1S5-TXNDC5)
NM_001145549.3:c.723-531_723-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (TXNDC5)	NP_001139021.1:n.723-531_723-503delinsCAG...
NM_030810.4:c.1047-531_1047-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (TXNDC5)	NP_110437.2:n.1047-531_1047-503delinsCAGA...
NM_030810.5:c.1047-531_1047-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (TXNDC5) MANE Select	NP_110437.2:n.1047-531_1047-503delinsCAGA...
NM_001145549.4:c.723-531_723-503delinsCAGAAGAGACAAGGGAACAGAGTCGGGTA (TXNDC5)	NP_001139021.1:n.723-531_723-503delinsCAG...